1-196392131-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392131
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392131
    reference: chr 1
allele count: 9
allele frequency: 1.729040190578652e-4
allele num: 52052
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1185+49G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.642+49G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1185+49G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24330G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1185+49G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.304+49G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1361+49G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1185+49G>C
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23986
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6579
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5544
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7525
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-196392132-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392132
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392132
    reference: chr 1
allele count: 3
allele frequency: 5.723443223443223e-5
allele num: 52416
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1185+48A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1185+48A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.304+48A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1185+48A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.642+48A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1361+48A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1185+48A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24331A>C
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24018
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12723
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9831
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4462
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4369
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5586
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6753
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3589
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

1-196392146-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392146
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392146
    reference: chr 1
allele count: 2
allele frequency: 3.687315634218289e-5
allele num: 54240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.304+34C>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1361+34C>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1185+34C>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.642+34C>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1185+34C>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24345C>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1185+34C>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1185+34C>T
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11578
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5118
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/1-196392150-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392150
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392150
    reference: chr 1
allele count: 1
allele frequency: 1.78660758950904e-5
allele num: 55972
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1185+30T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1185+30T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1185+30T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1361+30T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1185+30T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24349T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.304+30T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.642+30T>G
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10707
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4061
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4734
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

1-196392162-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392162
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392162
    reference: chr 1
allele count: 3
allele frequency: 4.78148608587549e-5
allele num: 62742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1361+18T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1185+18T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1185+18T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.304+18T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1185+18T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.642+18T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24361T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1185+18T>C
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16252
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-196392163-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392163
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392163
    reference: chr 1
allele count: 182
allele frequency: 2.865149082207739e-3
allele num: 63522
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1185+17T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1185+17T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1185+17T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.642+17T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24362T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.304+17T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1185+17T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1361+17T>C
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 1.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 25910
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16715
  bin: 2.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 1.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25086
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16896
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 2
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

1-196392172-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392172
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392172
    reference: chr 1
allele count: 6217
allele frequency: 8.273448312573192e-2
allele num: 75144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1185+8T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1185+8T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.642+8T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1361+8T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24371T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.304+8T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1185+8T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1185+8T>A
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.75e1
  variant carriers: 1492
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 2.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 20445
  bin: 2.25e1
  variant carriers: 1086
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 1.25e1
  variant carriers: 1547
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.75e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 20984
  bin: 7.5e0
  variant carriers: 548
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.25e1
  variant carriers: 323
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 2.75e1
  variant carriers: 678
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 3.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.75e1
  variant carriers: 107
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.75e1
  variant carriers: 137
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.75e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.25e1
  variant carriers: 71
hgvs: c.1185+8T>A
num of homozygotes: 263
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-196392174-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392174
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392174
    reference: chr 1
allele count: 1
allele frequency: 1.310856513646016e-5
allele num: 76286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.304+6T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1361+6T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.642+6T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24373T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1185+6T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1185+6T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1185+6T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1185+6T>G
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1185+6T>G
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

1-196392204-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392204
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392204
    reference: chr 1
allele count: 1
allele frequency: 1.111704019921736e-5
allele num: 89952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.280T>C
  hgvsp: ENST00000466914.2:c.280T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.618T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24403T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1337T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1161T>C
  hgvsp: ENST00000609185.1:c.1161T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1161T>C
  hgvsp: ENST00000367431.4:c.1161T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1161T>C
  hgvsp: ENST00000294725.9:c.1161T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1161T>C
  hgvsp: ENST00000367433.5:c.1161T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg387Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

1-196392205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392205
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392205
    reference: chr 1
allele count: 2
allele frequency: 2.221086999977789e-5
allele num: 90046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.617G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1336G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24404G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.279G>A
  hgvsp: ENSP00000477456.1:p.Arg94His
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1160G>A
  hgvsp: ENSP00000294725.8:p.Arg387His
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1160G>A
  hgvsp: ENSP00000356403.5:p.Arg387His
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1160G>A
  hgvsp: ENSP00000356401.4:p.Arg387His
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1160G>A
  hgvsp: ENSP00000476657.1:p.Arg387His
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29111
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg387His
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

1-196392206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392206
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392206
    reference: chr 1
allele count: 1
allele frequency: 1.109459249561764e-5
allele num: 90134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1335C>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1159C>T
  hgvsp: ENSP00000356403.5:p.Arg387Cys
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.616C>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.278C>T
  hgvsp: ENSP00000477456.1:p.Arg94Cys
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1159C>T
  hgvsp: ENSP00000356401.4:p.Arg387Cys
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1159C>T
  hgvsp: ENSP00000476657.1:p.Arg387Cys
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24405C>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1159C>T
  hgvsp: ENSP00000294725.8:p.Arg387Cys
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16425
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg387Cys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-196392228-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392228
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392228
    reference: chr 1
allele count: 1
allele frequency: 1.140432908332003e-5
allele num: 87686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1137G>A
  hgvsp: ENST00000367433.5:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1137G>A
  hgvsp: ENST00000294725.9:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1137G>A
  hgvsp: ENST00000367431.4:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1137G>A
  hgvsp: ENST00000609185.1:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.256G>A
  hgvsp: ENST00000466914.2:c.256G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1313G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24427G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.594G>A
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24884
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu379Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

1-196392233-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392233
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392233
    reference: chr 1
allele count: 2
allele frequency: 2.327530025137324e-5
allele num: 85928
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1132G>A
  hgvsp: ENSP00000294725.8:p.Ala378Thr
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24432G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1132G>A
  hgvsp: ENSP00000356401.4:p.Ala378Thr
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.251G>A
  hgvsp: ENSP00000477456.1:p.Ala85Thr
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1308G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1132G>A
  hgvsp: ENSP00000356403.5:p.Ala378Thr
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.589G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1132G>A
  hgvsp: ENSP00000476657.1:p.Ala378Thr
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22873
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala378Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

1-196392234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392234
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392234
    reference: chr 1
allele count: 13
allele frequency: 1.513986909836256e-4
allele num: 85866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1307C>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1131C>T
  hgvsp: ENST00000367431.4:c.1131C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1131C>T
  hgvsp: ENST00000294725.9:c.1131C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1131C>T
  hgvsp: ENST00000367433.5:c.1131C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1131C>T
  hgvsp: ENST00000609185.1:c.1131C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.250C>T
  hgvsp: ENST00000466914.2:c.250C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24433C>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.588C>T
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22777
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp377Asp
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

1-196392234-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392234
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392234
    reference: chr 1
allele count: 1
allele frequency: 1.164605315258659e-5
allele num: 85866
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1131C>A
  hgvsp: ENSP00000294725.8:p.Asp377Glu
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.250C>A
  hgvsp: ENSP00000477456.1:p.Asp84Glu
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24433C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1131C>A
  hgvsp: ENSP00000356401.4:p.Asp377Glu
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1307C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1131C>A
  hgvsp: ENSP00000356403.5:p.Asp377Glu
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.588C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1131C>A
  hgvsp: ENSP00000476657.1:p.Asp377Glu
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp377Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP

1-196392237-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392237
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392237
    reference: chr 1
allele count: 1
allele frequency: 1.184525360687972e-5
allele num: 84422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.585T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1128T>C
  hgvsp: ENST00000294725.9:c.1128T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24436T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.247T>C
  hgvsp: ENST00000466914.2:c.247T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1128T>C
  hgvsp: ENST00000609185.1:c.1128T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1304T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1128T>C
  hgvsp: ENST00000367431.4:c.1128T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1128T>C
  hgvsp: ENST00000367433.5:c.1128T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp376Asp
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

1-196392250-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392250
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392250
    reference: chr 1
allele count: 1
allele frequency: 1.275510204081633e-5
allele num: 78400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.241-7T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1122-7T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.579-7T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1298-7T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1122-7T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1122-7T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1122-7T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24449T>C
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14829
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1122-7T>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-196392255-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392255
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392255
    reference: chr 1
allele count: 12
allele frequency: 1.562459310955444e-4
allele num: 76802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.241-12A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24454A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1298-12A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.579-12A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1122-12A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1122-12A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1122-12A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1122-12A>G
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18528
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15951
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11692
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27990
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-196392262-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392262
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392262
    reference: chr 1
allele count: 1
allele frequency: 1.340949928929654e-5
allele num: 74574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.241-19T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1122-19T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.579-19T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1122-19T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1122-19T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1298-19T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1122-19T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24461T>C
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17810
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-196392274-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392274
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392274
    reference: chr 1
allele count: 1
allele frequency: 1.455222794609855e-5
allele num: 68718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1122-31G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1298-31G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.241-31G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24473G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1122-31G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1122-31G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.579-31G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1122-31G>A
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18293
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-196392277-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392277
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392276
    reference: chr 1
allele count: 369
allele frequency: 5.486825670612027e-3
allele num: 67252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24477delG
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.579-35delG
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1298-35delG
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1122-35delG
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1122-35delG
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.241-35delG
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1122-35delG
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1122-35delG
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 2.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17753
  bin: 1.25e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 1.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 19123
  bin: 7.5e0
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5641
  bin: 6.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3766
  bin: 2.75e1
  variant carriers: 5
num of homozygotes: 4
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: AC
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ

1-196392287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392287
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392287
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 59990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1122-44G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.241-44G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.579-44G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1122-44G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24486G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1298-44G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1122-44G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1122-44G>A
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21877
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3103
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9455
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4916
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-196392291-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196392291
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196392291
    reference: chr 1
allele count: 1
allele frequency: 1.77683013503909e-5
allele num: 56280
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1122-48T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1122-48T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1298-48T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.241-48T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.579-48T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-24490T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1122-48T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1122-48T>G
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23160
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8226
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

1-196394937-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196394937
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196394937
    reference: chr 1
allele count: 1
allele frequency: 8.29228651508367e-6
allele num: 120594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.578+45A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1121+45A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27136A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1297+45A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1121+45A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1121+45A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.240+45A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1121+45A>G
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

1-196394939-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196394939
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196394939
    reference: chr 1
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.240+43T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1297+43T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27138T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1121+43T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.578+43T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1121+43T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1121+43T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1121+43T>A
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8454
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-196394940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196394940
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196394940
    reference: chr 1
allele count: 2
allele frequency: 1.658897496723677e-5
allele num: 120562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1121+42G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.578+42G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.240+42G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1121+42G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1297+42G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1121+42G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1121+42G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27139G>A
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-196394941-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196394941
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196394941
    reference: chr 1
allele count: 2
allele frequency: 1.658264791721942e-5
allele num: 120608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1297+41A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27140A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1121+41A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1121+41A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.578+41A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.240+41A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1121+41A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1121+41A>G
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
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: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

1-196394942-CAAAACTGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196394942
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196394934
    reference: chr 1
allele count: 10
allele frequency: 8.292011476143884e-5
allele num: 120598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: CAAAACTGT
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

1-196394948-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196394948
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196394948
    reference: chr 1
allele count: 18
allele frequency: 1.491770399960219e-4
allele num: 120662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1297+34A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27147A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1121+34A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1121+34A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.240+34A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1121+34A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1121+34A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.578+34A>G
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
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: T
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

1-196394990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196394990
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196394990
    reference: chr 1
allele count: 4
allele frequency: 3.306550276096948e-5
allele num: 120972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1113G>A
  hgvsp: ENST00000609185.1:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1113G>A
  hgvsp: ENST00000367431.4:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.232G>A
  hgvsp: ENST00000466914.2:c.232G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1113G>A
  hgvsp: ENST00000294725.9:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1113G>A
  hgvsp: ENST00000367433.5:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1289G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.570G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27189G>A
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu371Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP

1-196394993-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196394993
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196394993
    reference: chr 1
allele count: 8
allele frequency: 6.611788819465106e-5
allele num: 120996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.567A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1110A>G
  hgvsp: ENST00000294725.9:c.1110A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1110A>G
  hgvsp: ENST00000367433.5:c.1110A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27192A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1110A>G
  hgvsp: ENST00000609185.1:c.1110A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.229A>G
  hgvsp: ENST00000466914.2:c.229A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1110A>G
  hgvsp: ENST00000367431.4:c.1110A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1286A>G
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14450
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38638
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu370Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-196395020-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395020
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395020
    reference: chr 1
allele count: 2
allele frequency: 1.653029175964956e-5
allele num: 120990
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.540A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1083A>G
  hgvsp: ENST00000294725.9:c.1083A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1259A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.202A>G
  hgvsp: ENST00000466914.2:c.202A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1083A>G
  hgvsp: ENST00000367431.4:c.1083A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1083A>G
  hgvsp: ENST00000367433.5:c.1083A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1083A>G
  hgvsp: ENST00000609185.1:c.1083A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27219A>G
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln361Gln
num of homozygotes: 1
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD

1-196395023-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395023
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395023
    reference: chr 1
allele count: 109
allele frequency: 9.009753678293933e-4
allele num: 120980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1080T>C
  hgvsp: ENST00000367433.5:c.1080T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.537T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.199T>C
  hgvsp: ENST00000466914.2:c.199T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1256T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1080T>C
  hgvsp: ENST00000294725.9:c.1080T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1080T>C
  hgvsp: ENST00000609185.1:c.1080T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27222T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1080T>C
  hgvsp: ENST00000367431.4:c.1080T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 14458
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38631
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Leu360Leu
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

1-196395037-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395037
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395037
    reference: chr 1
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27236C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1242C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.523C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.185C>A
  hgvsp: ENST00000466914.2:c.185C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1066C>A
  hgvsp: ENST00000294725.9:c.1066C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1066C>A
  hgvsp: ENST00000367431.4:c.1066C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1066C>A
  hgvsp: ENST00000367433.5:c.1066C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1066C>A
  hgvsp: ENST00000609185.1:c.1066C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38682
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg356Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-196395043-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395043
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395043
    reference: chr 1
allele count: 1
allele frequency: 8.268973158913126e-6
allele num: 120934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1060T>C
  hgvsp: ENSP00000356403.5:p.Ser354Pro
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.517T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27242T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1060T>C
  hgvsp: ENSP00000356401.4:p.Ser354Pro
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1060T>C
  hgvsp: ENSP00000294725.8:p.Ser354Pro
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1236T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1060T>C
  hgvsp: ENSP00000476657.1:p.Ser354Pro
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.179T>C
  hgvsp: ENSP00000477456.1:p.Ser61Pro
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser354Pro
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS

1-196395044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395044
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395044
    reference: chr 1
allele count: 1
allele frequency: 8.268426187759421e-6
allele num: 120942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27243G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1059G>A
  hgvsp: ENSP00000476657.1:p.Trp353Ter
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1235G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1059G>A
  hgvsp: ENSP00000356403.5:p.Trp353Ter
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.516G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.178G>A
  hgvsp: ENSP00000477456.1:p.Trp60Ter
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1059G>A
  hgvsp: ENSP00000294725.8:p.Trp353Ter
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1059G>A
  hgvsp: ENSP00000356401.4:p.Trp353Ter
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Trp353Ter
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-196395049-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395049
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395049
    reference: chr 1
allele count: 1
allele frequency: 8.270204108637402e-6
allele num: 120916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1054A>T
  hgvsp: ENSP00000356401.4:p.Met352Leu
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1054A>T
  hgvsp: ENSP00000476657.1:p.Met352Leu
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1054A>T
  hgvsp: ENSP00000356403.5:p.Met352Leu
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1054A>T
  hgvsp: ENSP00000294725.8:p.Met352Leu
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27248A>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.511A>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1230A>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.173A>T
  hgvsp: ENSP00000477456.1:p.Met59Leu
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38650
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met352Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-196395069-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395069
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395069
    reference: chr 1
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1034G>T
  hgvsp: ENSP00000356403.5:p.Arg345Leu
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27268G>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.153G>T
  hgvsp: ENSP00000477456.1:p.Arg52Leu
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1034G>T
  hgvsp: ENSP00000356401.4:p.Arg345Leu
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1034G>T
  hgvsp: ENSP00000294725.8:p.Arg345Leu
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.491G>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1034G>T
  hgvsp: ENSP00000476657.1:p.Arg345Leu
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1210G>T
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38573
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg345Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

1-196395069-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395069
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395069
    reference: chr 1
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27268G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1034G>A
  hgvsp: ENSP00000356403.5:p.Arg345Gln
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1034G>A
  hgvsp: ENSP00000356401.4:p.Arg345Gln
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1034G>A
  hgvsp: ENSP00000294725.8:p.Arg345Gln
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1210G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.491G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1034G>A
  hgvsp: ENSP00000476657.1:p.Arg345Gln
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.153G>A
  hgvsp: ENSP00000477456.1:p.Arg52Gln
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg345Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-196395077-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395077
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395077
    reference: chr 1
allele count: 2
allele frequency: 1.656781205474005e-5
allele num: 120716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1026A>G
  hgvsp: ENST00000609185.1:c.1026A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27276A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1026A>G
  hgvsp: ENST00000294725.9:c.1026A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1026A>G
  hgvsp: ENST00000367431.4:c.1026A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1026A>G
  hgvsp: ENST00000367433.5:c.1026A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.483A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.145A>G
  hgvsp: ENST00000466914.2:c.145A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1202A>G
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val342Val
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-196395078-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395078
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395078
    reference: chr 1
allele count: 4
allele frequency: 3.313287941288538e-5
allele num: 120726
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1025T>C
  hgvsp: ENSP00000356403.5:p.Val342Ala
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.144T>C
  hgvsp: ENSP00000477456.1:p.Val49Ala
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27277T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.482T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1025T>C
  hgvsp: ENSP00000356401.4:p.Val342Ala
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1025T>C
  hgvsp: ENSP00000476657.1:p.Val342Ala
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1025T>C
  hgvsp: ENSP00000294725.8:p.Val342Ala
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1201T>C
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val342Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-196395083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395083
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395083
    reference: chr 1
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27282G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1196G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1020G>A
  hgvsp: ENSP00000356401.4:p.Met340Ile
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.477G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1020G>A
  hgvsp: ENSP00000476657.1:p.Met340Ile
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1020G>A
  hgvsp: ENSP00000294725.8:p.Met340Ile
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.139G>A
  hgvsp: ENSP00000477456.1:p.Met47Ile
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1020G>A
  hgvsp: ENSP00000356403.5:p.Met340Ile
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14449
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met340Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff

1-196395095-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395095
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395095
    reference: chr 1
allele count: 1
allele frequency: 8.294212298657997e-6
allele num: 120566
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.465T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.127T>C
  hgvsp: ENST00000466914.2:c.127T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.1008T>C
  hgvsp: ENST00000609185.1:c.1008T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.1008T>C
  hgvsp: ENST00000367431.4:c.1008T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.1008T>C
  hgvsp: ENST00000367433.5:c.1008T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1184T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.1008T>C
  hgvsp: ENST00000294725.9:c.1008T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27294T>C
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys336Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-196395122-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395122
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395122
    reference: chr 1
allele count: 1
allele frequency: 8.331805835596807e-6
allele num: 120022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.442-4A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1161-4A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.985-4A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.985-4A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.985-4A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.104-4A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27321A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.985-4A>C
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
hgvs: c.985-4A>C
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

1-196395124-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395124
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395124
    reference: chr 1
allele count: 2
allele frequency: 1.667222407469156e-5
allele num: 119960
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.985-6G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.104-6G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.985-6G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.442-6G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.985-6G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.985-6G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1161-6G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27323G>C
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3665
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
hgvs: c.985-6G>C
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-196395124-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395124
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395123
    reference: chr 1
allele count: 1
allele frequency: 8.336112037345782e-6
allele num: 119960
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.442-7delT
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.985-7delT
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.985-7delT
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1161-7delT
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.985-7delT
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27324delT
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.104-7delT
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.985-7delT
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
hgvs: c.985-7delT
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: CA
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

1-196395129-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395129
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395129
    reference: chr 1
allele count: 5
allele frequency: 4.179274143666728e-5
allele num: 119638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.104-11G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1161-11G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.442-11G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.985-11G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27328G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.985-11G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.985-11G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.985-11G>A
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14066
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3652
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-196395132-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395132
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395132
    reference: chr 1
allele count: 3
allele frequency: 2.511048613901165e-5
allele num: 119472
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.985-14T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.985-14T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.442-14T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.985-14T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27331T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.985-14T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.104-14T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1161-14T>G
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13927
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-196395138-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395138
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395138
    reference: chr 1
allele count: 6
allele frequency: 5.037698779197663e-5
allele num: 119102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.985-20G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.985-20G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.442-20G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.104-20G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27337G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.985-20G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1161-20G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.985-20G>A
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13443
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

1-196395144-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395144
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395144
    reference: chr 1
allele count: 1
allele frequency: 8.425309630128907e-6
allele num: 118690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.985-26T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.985-26T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.104-26T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27343T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1161-26T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.442-26T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.985-26T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.985-26T>C
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11737
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-196395157-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395157
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395157
    reference: chr 1
allele count: 1
allele frequency: 8.487523340689187e-6
allele num: 117820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.985-39T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.985-39T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.442-39T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1161-39T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.104-39T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.985-39T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27356T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.985-39T>G
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12066
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20465
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

1-196395161-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395161
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395161
    reference: chr 1
allele count: 1
allele frequency: 8.51368148614824e-6
allele num: 117458
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.985-43A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.985-43A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27360A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.442-43A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.985-43A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.104-43A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1161-43A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.985-43A>G
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5715
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

1-196395163-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395163
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395163
    reference: chr 1
allele count: 1
allele frequency: 8.597713008339781e-6
allele num: 116310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.104-45A>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.985-45A>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.442-45A>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.985-45A>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.985-45A>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27362A>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1161-45A>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.985-45A>T
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5895
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5911
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-196395163-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395163
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395163
    reference: chr 1
allele count: 97
allele frequency: 8.339781618089588e-4
allele num: 116310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.104-45A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.985-45A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.985-45A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.985-45A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27362A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.985-45A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.442-45A>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1161-45A>C
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12750
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10948
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12028
  bin: 2.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 5911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13117
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

1-196395165-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395165
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395165
    reference: chr 1
allele count: 1
allele frequency: 8.600670852326481e-6
allele num: 116270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.442-47A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.985-47A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.985-47A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.985-47A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1161-47A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.104-47A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27364A>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.985-47A>G
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6323
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5957
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3030
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3596
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

1-196395166-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196395166
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196395166
    reference: chr 1
allele count: 2
allele frequency: 1.72995415621486e-5
allele num: 115610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.985-48C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.985-48C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.104-48C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1161-48C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.985-48C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-27365C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.985-48C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.442-48C>A
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12675
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10636
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3596
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4433
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-196397208-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196397208
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196397208
    reference: chr 1
allele count: 149
allele frequency: 1.253259315333502e-3
allele num: 118890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.984+27T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-29407T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.103+27T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.441+27T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.984+27T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.984+27T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.984+27T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1160+27T>C
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15151
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11259
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 13038
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9845
  bin: 9.75e1
  variant carriers: 146
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4306
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-196397213-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196397213
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196397213
    reference: chr 1
allele count: 1
allele frequency: 8.39602364320258e-6
allele num: 119104
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.984+22T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.984+22T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.103+22T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-29412T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.984+22T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1160+22T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.441+22T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.984+22T>G
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-196397214-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196397214
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196397214
    reference: chr 1
allele count: 2
allele frequency: 1.679317525357695e-5
allele num: 119096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-29413G>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.984+21G>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.984+21G>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.441+21G>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.984+21G>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.103+21G>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.984+21G>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1160+21G>T
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-196397218-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196397218
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196397218
    reference: chr 1
allele count: 1
allele frequency: 8.381386616601851e-6
allele num: 119312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1160+17T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.103+17T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.984+17T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.441+17T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-29417T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.984+17T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.984+17T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.984+17T>A
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3002
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

1-196397226-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196397226
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196397226
    reference: chr 1
allele count: 1
allele frequency: 8.364001338240215e-6
allele num: 119560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.984+9G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.984+9G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.103+9G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.984+9G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.441+9G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.984+9G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1160+9G>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-29425G>C
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9736
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/1-196397227-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196397227
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196397227
    reference: chr 1
allele count: 1
allele frequency: 8.355335717389125e-6
allele num: 119684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.984+8T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.441+8T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1160+8T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.103+8T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-29426T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.984+8T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.984+8T>G
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.984+8T>G
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3025
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9737
  bin: 9.75e1
  variant carriers: 1
hgvs: c.984+8T>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-196397231-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196397231
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196397231
    reference: chr 1
allele count: 1
allele frequency: 8.348220994106157e-6
allele num: 119786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.103+4C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.984+4C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.984+4C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.984+4C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.984+4C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-29430C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1160+4C>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.441+4C>A
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11558
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26250
  bin: 6.25e1
  variant carriers: 0
hgvs: c.984+4C>A
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-196397238-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196397238
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196397238
    reference: chr 1
allele count: 1
allele frequency: 8.331389342486753e-6
allele num: 120028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.100C>T
  hgvsp: ENST00000466914.2:c.100C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.981C>T
  hgvsp: ENST00000367431.4:c.981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-29437C>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.981C>T
  hgvsp: ENST00000294725.9:c.981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.981C>T
  hgvsp: ENST00000609185.1:c.981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.438C>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1157C>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.981C>T
  hgvsp: ENST00000367433.5:c.981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16416
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu327Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-196397262-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196397262
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196397262
    reference: chr 1
allele count: 1
allele frequency: 8.300546175938376e-6
allele num: 120474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1133T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.957T>C
  hgvsp: ENST00000367433.5:c.957T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.76T>C
  hgvsp: ENST00000466914.2:c.76T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.957T>C
  hgvsp: ENST00000294725.9:c.957T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.957T>C
  hgvsp: ENST00000609185.1:c.957T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.957T>C
  hgvsp: ENST00000367431.4:c.957T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-29461T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.414T>C
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16833
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7994
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn319Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

1-196397295-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196397295
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196397295
    reference: chr 1
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-29494A>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.43A>T
  hgvsp: ENST00000466914.2:c.43A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.924A>T
  hgvsp: ENST00000294725.9:c.924A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.924A>T
  hgvsp: ENST00000367431.4:c.924A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.924A>T
  hgvsp: ENST00000367433.5:c.924A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.381A>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.924A>T
  hgvsp: ENST00000609185.1:c.924A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1100A>T
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser308Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

1-196397302-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196397302
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196397302
    reference: chr 1
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.36T>A
  hgvsp: ENSP00000477456.1:p.Val13Asp
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.917T>A
  hgvsp: ENSP00000294725.8:p.Val306Asp
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.917T>A
  hgvsp: ENSP00000476657.1:p.Val306Asp
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-29501T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.374T>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.917T>A
  hgvsp: ENSP00000356403.5:p.Val306Asp
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.917T>A
  hgvsp: ENSP00000356401.4:p.Val306Asp
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1093T>A
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9747
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val306Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

1-196397307-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196397307
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196397307
    reference: chr 1
allele count: 1
allele frequency: 8.287613333112331e-6
allele num: 120662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.369G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.912G>A
  hgvsp: ENST00000609185.1:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.912G>A
  hgvsp: ENST00000367433.5:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-29506G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1088G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.912G>A
  hgvsp: ENST00000294725.9:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.31G>A
  hgvsp: ENST00000466914.2:c.31G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.912G>A
  hgvsp: ENST00000367431.4:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu304Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-196397311-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196397311
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196397311
    reference: chr 1
allele count: 1
allele frequency: 8.287338604080686e-6
allele num: 120666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.908T>C
  hgvsp: ENSP00000476657.1:p.Val303Ala
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.908T>C
  hgvsp: ENSP00000356403.5:p.Val303Ala
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.27T>C
  hgvsp: ENSP00000477456.1:p.Val10Ala
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-29510T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.365T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.908T>C
  hgvsp: ENSP00000294725.8:p.Val303Ala
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1084T>C
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.908T>C
  hgvsp: ENSP00000356401.4:p.Val303Ala
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4410
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val303Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-196397312-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196397312
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196397312
    reference: chr 1
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.907G>A
  hgvsp: ENSP00000356403.5:p.Val303Ile
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.907G>A
  hgvsp: ENSP00000476657.1:p.Val303Ile
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.26G>A
  hgvsp: ENSP00000477456.1:p.Val10Ile
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1083G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.907G>A
  hgvsp: ENSP00000294725.8:p.Val303Ile
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-29511G>A
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.907G>A
  hgvsp: ENSP00000356401.4:p.Val303Ile
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.364G>A
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27330
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val303Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

1-196397313-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 196397313
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 196397313
    reference: chr 1
allele count: 7
allele frequency: 5.80248346292213e-5
allele num: 120638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356401
  ensembl transcript: ENST00000367431
  gene symbol: KCNT2
  hgvsc: ENST00000367431.4:c.906C>T
  hgvsp: ENST00000367431.4:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000294725
  ensembl transcript: ENST00000294725
  gene symbol: KCNT2
  hgvsc: ENST00000294725.9:c.906C>T
  hgvsp: ENST00000294725.9:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000405474
  ensembl transcript: ENST00000451324
  gene symbol: KCNT2
  hgvsc: ENST00000451324.2:c.19-29512C>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000477456
  ensembl transcript: ENST00000466914
  gene symbol: KCNT2
  hgvsc: ENST00000466914.2:c.25C>T
  hgvsp: ENST00000466914.2:c.25C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000610076
  gene symbol: KCNT2
  hgvsc: ENST00000610076.1:n.1082C>T
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000476657
  ensembl transcript: ENST00000609185
  gene symbol: KCNT2
  hgvsc: ENST00000609185.1:c.906C>T
  hgvsp: ENST00000609185.1:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162687
  ensembl protein: ENSP00000356403
  ensembl transcript: ENST00000367433
  gene symbol: KCNT2
  hgvsc: ENST00000367433.5:c.906C>T
  hgvsp: ENST00000367433.5:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162687
  ensembl transcript: ENST00000498426
  gene symbol: KCNT2
  hgvsc: ENST00000498426.1:n.363C>T
  variant of: http://identifiers.org/hgnc/18866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val302Val
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 3574
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14098
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4306
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4557
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2815
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3099
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 2.155172413793103e-3
allele num: 464
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 2.400960384153661e-3
allele num: 3332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.344e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.135e0

DP
type: SiteQuality
SIO_000300: 8.32944e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.82e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e-1

GenotypeQuality
all individuals: 355
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3130
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15042
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3054
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1827
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6619
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 5.255781359495446e-4
allele num: 5708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23936
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.416e1

FS
type: SiteQuality
SIO_000300: 5.816e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.909999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.49e-2

DP
type: SiteQuality
SIO_000300: 8.35297e5

GenotypeQuality
all individuals: 391
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5337
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7749
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1844
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2727
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 3.385240352064996e-4
allele num: 5908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

VQSLOD
type: SiteQuality
SIO_000300: -1.323e0

FS
type: SiteQuality
SIO_000300: 1.0375e1

DP
type: SiteQuality
SIO_000300: 9.01371e5

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.073e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

QD
type: SiteQuality
SIO_000300: 1.117e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 24793
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4531
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9213
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2388
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.85459940652819e-4
allele num: 5392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10416
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

QD
type: SiteQuality
SIO_000300: 2.041e1

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.013e0

DP
type: SiteQuality
SIO_000300: 9.27279e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

GenotypeQuality
all individuals: 340
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3058
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 731
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2908
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25282
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.731742851939537e-4
allele num: 10982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4280
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.49e-1

FS
type: SiteQuality
SIO_000300: 1.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e0

DP
type: SiteQuality
SIO_000300: 1.027268e6

QD
type: SiteQuality
SIO_000300: 1.175e1

GenotypeQuality
all individuals: 1226
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 320
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 171
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2875
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3226
bin: 9.75e1
variant carriers: 174

GenotypeQuality
all individuals: 447
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 337
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2518
bin: 7.5e0
variant carriers: 1

South Asian
type: Population
allele count: 7
allele frequency: 6.360167181537343e-4
allele num: 11006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.37854976564654e-4
allele num: 7254
num of homozygotes: 0

East Asian
type: Population
allele count: 174
allele frequency: 3.79746835443038e-2
allele num: 4582
num of homozygotes: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29880
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.443e1

FS
type: SiteQuality
SIO_000300: 6.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e-1

DP
type: SiteQuality
SIO_000300: 1.035758e6

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

GenotypeQuality
all individuals: 483
bin: 7.25e1
variant carriers: 66

GenotypeQuality
all individuals: 1809
bin: 2.75e1
variant carriers: 27

GenotypeQuality
all individuals: 1789
bin: 3.25e1
variant carriers: 42

GenotypeQuality
all individuals: 506
bin: 2.5e0
variant carriers: 12

GenotypeQuality
all individuals: 20054
bin: 2.25e1
variant carriers: 48

GenotypeQuality
all individuals: 1530
bin: 7.5e0
variant carriers: 11

GenotypeQuality
all individuals: 317
bin: 9.25e1
variant carriers: 108

GenotypeQuality
all individuals: 8080
bin: 9.75e1
variant carriers: 5379

GenotypeQuality
all individuals: 294
bin: 4.25e1
variant carriers: 58

GenotypeQuality
all individuals: 427
bin: 8.25e1
variant carriers: 118

GenotypeQuality
all individuals: 341
bin: 5.75e1
variant carriers: 67

GenotypeQuality
all individuals: 1440
bin: 6.75e1
variant carriers: 70

GenotypeQuality
all individuals: 456
bin: 1.75e1
variant carriers: 32

GenotypeQuality
all individuals: 19974
bin: 6.25e1
variant carriers: 79

East Asian
type: Population
allele count: 85
allele frequency: 1.593550806149231e-2
allele num: 5334
num of homozygotes: 2

Other
type: Population
allele count: 50
allele frequency: 8.090614886731391e-2
allele num: 618
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 4633
allele frequency: 1.224430466726571e-1
allele num: 37838
num of homozygotes: 204

European (Finnish)
type: Population
allele count: 821
allele frequency: 1.634806849860613e-1
allele num: 5022
num of homozygotes: 52

African
type: Population
allele count: 101
allele frequency: 1.543870376031795e-2
allele num: 6542
num of homozygotes: 0

South Asian
type: Population
allele count: 174
allele frequency: 1.505711318795431e-2
allele num: 11556
num of homozygotes: 2

Latino
type: Population
allele count: 353
allele frequency: 4.287102258926403e-2
allele num: 8234
num of homozygotes: 2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

FS
type: SiteQuality
SIO_000300: 6.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.52e-2

DP
type: SiteQuality
SIO_000300: 1.172161e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.102e0

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
all individuals: 852
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23439
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1767
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20997
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 5.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.609875769913352e-5
allele num: 38316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5066
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11668
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

QD
type: SiteQuality
SIO_000300: 1.48e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.875e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQ
type: SiteQuality
SIO_000300: 5.805e1

DP
type: SiteQuality
SIO_000300: 1.15884e6

GenotypeQuality
all individuals: 983
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 7.5e0
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GenotypeQuality
all individuals: 30623
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16442
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.152852529601722e-5
allele num: 46450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12916
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.884e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

VQSLOD
type: SiteQuality
SIO_000300: 9.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.66e-1

DP
type: SiteQuality
SIO_000300: 1.287003e6

QD
type: SiteQuality
SIO_000300: 1.091e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

GenotypeQuality
all individuals: 31092
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3086
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 840
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6914
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.261988894497728e-4
allele num: 7924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.151370422959425e-5
allele num: 46482
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.69e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.01e-1

DP
type: SiteQuality
SIO_000300: 1.289973e6

FS
type: SiteQuality
SIO_000300: 2.869e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
all individuals: 368
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 307
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variant carriers: 0

GenotypeQuality
all individuals: 31100
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variant carriers: 0

GenotypeQuality
all individuals: 979
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.149151085321298e-5
allele num: 46530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5548
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

DP
type: SiteQuality
SIO_000300: 1.2904e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.945e0

QD
type: SiteQuality
SIO_000300: 1.253e1

GenotypeQuality
all individuals: 1043
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 579
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 246
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variant carriers: 0

GenotypeQuality
all individuals: 223
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variant carriers: 0

GenotypeQuality
all individuals: 603
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variant carriers: 0

GenotypeQuality
all individuals: 19662
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
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variant carriers: 0

GenotypeQuality
all individuals: 536
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variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5376
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.865345288658172e-5
allele num: 12714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.37e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.79e-1

FS
type: SiteQuality
SIO_000300: 3.666e0

MQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

DP
type: SiteQuality
SIO_000300: 1.249477e6

GenotypeQuality
all individuals: 3086
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 20972
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 362
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variant carriers: 0

GenotypeQuality
all individuals: 158
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GenotypeQuality
all individuals: 203
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variant carriers: 0

GenotypeQuality
all individuals: 1275
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GenotypeQuality
all individuals: 510
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variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.553112052087602e-5
allele num: 43926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12580
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.438e0

QD
type: SiteQuality
SIO_000300: 6.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.472e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

DP
type: SiteQuality
SIO_000300: 1.226345e6

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

GenotypeQuality
all individuals: 574
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 335
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 2.5e0
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GenotypeQuality
all individuals: 1272
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variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
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variant carriers: 0

GenotypeQuality
all individuals: 485
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variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
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variant carriers: 1

GenotypeQuality
all individuals: 1832
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variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
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variant carriers: 0

GenotypeQuality
all individuals: 3093
bin: 9.75e1
variant carriers: 11

South Asian
type: Population
allele count: 4
allele frequency: 3.180155827635554e-4
allele num: 12578
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.907267517582704e-4
allele num: 7678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.139990880072959e-4
allele num: 43860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.083893344894862e-4
allele num: 9226
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.41e-1

FS
type: SiteQuality
SIO_000300: 5.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.133e1

DP
type: SiteQuality
SIO_000300: 1.226414e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQ
type: SiteQuality
SIO_000300: 5.901e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.57e-1

GenotypeQuality
all individuals: 485
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21113
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variant carriers: 0

GenotypeQuality
all individuals: 355
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GenotypeQuality
all individuals: 502
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GenotypeQuality
all individuals: 574
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GenotypeQuality
all individuals: 1131
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 245
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variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1430
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3093
bin: 9.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.279981760145919e-5
allele num: 43860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12578
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.57e-1

QD
type: SiteQuality
SIO_000300: 1.133e1

MQ
type: SiteQuality
SIO_000300: 5.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.41e-1

FS
type: SiteQuality
SIO_000300: 5.43e-1

DP
type: SiteQuality
SIO_000300: 1.226414e6

GenotypeQuality
all individuals: 273
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
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GenotypeQuality
all individuals: 3085
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 478
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GenotypeQuality
all individuals: 1473
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GenotypeQuality
all individuals: 524
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GenotypeQuality
all individuals: 562
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GenotypeQuality
all individuals: 660
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variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
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GenotypeQuality
all individuals: 1763
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.01667468334135e-5
allele num: 12474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43022
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.144e-1

DP
type: SiteQuality
SIO_000300: 1.197573e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

FS
type: SiteQuality
SIO_000300: 1.958e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeQuality
all individuals: 253
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2865
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 8.75e1
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GenotypeQuality
all individuals: 1444
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
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variant carriers: 0

GenotypeQuality
all individuals: 341
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variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4926
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.529212403257626e-5
allele num: 39538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12054
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

DP
type: SiteQuality
SIO_000300: 1.083341e6

GenotypeQuality
all individuals: 178
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 3098
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 2818
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6980
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11926
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.893564962074871e-4
allele num: 8174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 2.0755500207555e-4
allele num: 38544
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.054894e6

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

FS
type: SiteQuality
SIO_000300: 1.804e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.25e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

GenotypeQuality
all individuals: 964
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4592
bin: 7.5e0
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10573
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GenotypeQuality
all individuals: 3309
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4764
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.536793580331228e-5
allele num: 11714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37182
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.714e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 5.414e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

QD
type: SiteQuality
SIO_000300: 1.547e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

DP
type: SiteQuality
SIO_000300: 1.008169e6

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3083
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1906
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variant carriers: 0

GenotypeQuality
all individuals: 3771
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variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.85112409275978e-5
allele num: 11298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

DP
type: SiteQuality
SIO_000300: 9.42936e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.36e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeQuality
all individuals: 3458
bin: 9.75e1
variant carriers: 395

GenotypeQuality
all individuals: 1081
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2051
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 11

GenotypeQuality
all individuals: 502
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variant carriers: 3

GenotypeQuality
all individuals: 417
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GenotypeQuality
all individuals: 7954
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GenotypeQuality
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bin: 2.25e1
variant carriers: 5

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 407
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variant carriers: 1

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 6

GenotypeQuality
all individuals: 339
bin: 8.25e1
variant carriers: 4

South Asian
type: Population
allele count: 24
allele frequency: 2.148997134670487e-3
allele num: 11168
num of homozygotes: 1

Other
type: Population
allele count: 4
allele frequency: 7.042253521126761e-3
allele num: 568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 311
allele frequency: 9.541047981347405e-3
allele num: 32596
num of homozygotes: 3

East Asian
type: Population
allele count: 1
allele frequency: 2.060156571899464e-4
allele num: 4854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 23
allele frequency: 5.152329749103943e-3
allele num: 4464
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.591849729385546e-4
allele num: 6282
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 6.830601092896175e-4
allele num: 7320
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

QD
type: SiteQuality
SIO_000300: 1.59e1

DP
type: SiteQuality
SIO_000300: 9.28442e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 818
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
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GenotypeQuality
all individuals: 4977
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variant carriers: 0

GenotypeQuality
all individuals: 330
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variant carriers: 0

GenotypeQuality
all individuals: 117
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GenotypeQuality
all individuals: 3540
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GenotypeQuality
all individuals: 384
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GenotypeQuality
all individuals: 2463
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GenotypeQuality
all individuals: 238
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GenotypeQuality
all individuals: 498
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variant carriers: 0

GenotypeQuality
all individuals: 382
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variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4148
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 2.831e0

DP
type: SiteQuality
SIO_000300: 8.88148e5

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

QD
type: SiteQuality
SIO_000300: 5.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.496e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

GenotypeQuality
all individuals: 1296
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variant carriers: 0

GenotypeQuality
all individuals: 831
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 331
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GenotypeQuality
all individuals: 3106
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variant carriers: 2

GenotypeQuality
all individuals: 497
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.837004067224311e-5
allele num: 26062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.811e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 1.305e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

DP
type: SiteQuality
SIO_000300: 8.79819e5

GenotypeQuality
all individuals: 256
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 320
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GenotypeQuality
all individuals: 36663
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variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
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: 10392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.092e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e0

DP
type: SiteQuality
SIO_000300: 1.848546e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

QD
type: SiteQuality
SIO_000300: 1.908e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 2454
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GenotypeQuality
all individuals: 133
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GenotypeQuality
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GenotypeQuality
all individuals: 821
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 591
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66384
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: 6592
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.09979260705136e-5
allele num: 16394
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.56e1

DP
type: SiteQuality
SIO_000300: 1.850865e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.411e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.025e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

GenotypeQuality
all individuals: 1599
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3865
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2838
bin: 7.75e1
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GenotypeQuality
all individuals: 76
bin: 5.75e1
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GenotypeQuality
all individuals: 308
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 7.5e0
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GenotypeQuality
all individuals: 313
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
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variant carriers: 0

GenotypeQuality
all individuals: 9458
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2443
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.220852154804053e-4
allele num: 16382
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.851929e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.44e-1

FS
type: SiteQuality
SIO_000300: 2.979e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.13e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

GenotypeQuality
all individuals: 266
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 7.5e0
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GenotypeQuality
all individuals: 9486
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37318
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2846
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506024096385542e-5
allele num: 66400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.74737578726382e-5
allele num: 11432
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.269e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

FS
type: SiteQuality
SIO_000300: 5.321e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.18e-1

DP
type: SiteQuality
SIO_000300: 1.852706e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

GenotypeQuality
all individuals: 188
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
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GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 817
bin: 9.25e1
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GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1596
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.506296318611797e-4
allele num: 66388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 6594
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

FS
type: SiteQuality
SIO_000300: 1.0481e1

MQRankSum
type: SiteQuality
SIO_000300: -5.286e0

DP
type: SiteQuality
SIO_000300: 1.853941e6

VQSLOD
type: SiteQuality
SIO_000300: -2.211e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.85e-1

QD
type: SiteQuality
SIO_000300: 4.94e0

MQ
type: SiteQuality
SIO_000300: 5.275e1

GenotypeQuality
all individuals: 125
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3853
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37931
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2454
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 18
allele frequency: 2.121140702333255e-3
allele num: 8486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

QD
type: SiteQuality
SIO_000300: 1.418e1

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

DP
type: SiteQuality
SIO_000300: 1.857632e6

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

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

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

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2457
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3836
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817961459217065e-4
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 8.946e0

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.02e-1

QD
type: SiteQuality
SIO_000300: 1.195e1

VQSLOD
type: SiteQuality
SIO_000300: -2.105e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.949e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.865814e6

GenotypeQuality
all individuals: 3832
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 593
bin: 8.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 9578
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2456
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 8
allele frequency: 6.968641114982578e-4
allele num: 11480
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.358e1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

FS
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

DP
type: SiteQuality
SIO_000300: 1.866063e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 817
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 2454
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9579
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3823
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1598
bin: 8.25e1
variant carriers: 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: 11468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
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: 6596
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.879e1

MQ
type: SiteQuality
SIO_000300: 5.786e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.05e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.865453e6

VQSLOD
type: SiteQuality
SIO_000300: 2.78e-1

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

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

GenotypeQuality
all individuals: 169
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
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GenotypeQuality
all individuals: 2453
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 9574
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variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3831
bin: 9.75e1
variant carriers: 108

European (Non-Finnish)
type: Population
allele count: 86
allele frequency: 1.291213740916461e-3
allele num: 66604
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.046937707206421e-3
allele num: 11462
num of homozygotes: 0

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

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

African
type: Population
allele count: 6
allele frequency: 5.767012687427913e-4
allele num: 10404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.064281382656155e-4
allele num: 6596
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

DP
type: SiteQuality
SIO_000300: 1.87007e6

QD
type: SiteQuality
SIO_000300: 1.398e1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

FS
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 56
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GenotypeQuality
all individuals: 593
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 815
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variant carriers: 0

GenotypeQuality
all individuals: 9589
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2836
bin: 7.75e1
variant carriers: 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: 8490
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: 1
allele frequency: 8.729050279329609e-5
allele num: 11456
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.168e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: -2.312e0

MQRankSum
type: SiteQuality
SIO_000300: -1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 8.279999999999999e0

QD
type: SiteQuality
SIO_000300: 1.508e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

DP
type: SiteQuality
SIO_000300: 1.860155e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2458
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

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

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9590
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3730
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1596
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38652
bin: 6.25e1
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: 904
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.859711e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e0

QD
type: SiteQuality
SIO_000300: 1.058e1

VQSLOD
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FS
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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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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

Latino
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allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

East Asian
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allele frequency: 1.181474480151229e-4
allele num: 8464
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
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QD
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.74737578726382e-5
allele num: 11432
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66494
num of homozygotes: 0

South Asian
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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VQSLOD
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DP
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ReadPosRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11410
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.00833308263891e-5
allele num: 66482
num of homozygotes: 0

South Asian
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 6.017209218364522e-5
allele num: 66476
num of homozygotes: 0

South Asian
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Other
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South Asian
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Latino
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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DP
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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Other
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South Asian
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African
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East Asian
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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DP
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QD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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Latino
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allele num: 11346
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DP
type: SiteQuality
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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SIO_000300: -2.67e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.419e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 38074
bin: 6.25e1
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GenotypeQuality
all individuals: 789
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215362177929023e-4
allele num: 16456
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65998
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.385e0

DP
type: SiteQuality
SIO_000300: 1.837302e6

QD
type: SiteQuality
SIO_000300: 1.302e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.48e-1

FS
type: SiteQuality
SIO_000300: 5.953e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515197430225158e-5
allele num: 65998
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.302e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.385e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 1.837302e6

FS
type: SiteQuality
SIO_000300: 5.953e0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.83e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65806
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.992329817833174e-4
allele num: 8344
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-1

DP
type: SiteQuality
SIO_000300: 1.824679e6

QD
type: SiteQuality
SIO_000300: 1.12e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.973e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: 8.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

FS
type: SiteQuality
SIO_000300: 2.026e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.565654106044926e-5
allele num: 65708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.695e0

QD
type: SiteQuality
SIO_000300: 1.414e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.224e0

DP
type: SiteQuality
SIO_000300: 1.813591e6

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.11e0

GenotypeQuality
all individuals: 35553
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526670941345302e-5
allele num: 65502
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 5
allele frequency: 3.054367745876604e-4
allele num: 16370
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.27e0

DP
type: SiteQuality
SIO_000300: 1.784585e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.815e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.832841691248771e-5
allele num: 10170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.708589e6

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e-1

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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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11214
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64792
num of homozygotes: 0

African
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allele frequency: 9.940357852882704e-5
allele num: 10060
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6474
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South Asian
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.167e1

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-1

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

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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bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5485149741398e-5
allele num: 64578
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.355e1

MQ
type: SiteQuality
SIO_000300: 5.899e1

DP
type: SiteQuality
SIO_000300: 1.549414e6

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4601
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8022
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63942
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.981498113885396e-5
allele num: 11134
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.55e1

ClippingRankSum
type: SiteQuality
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FS
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DP
type: SiteQuality
SIO_000300: 1.51527e6

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

GenotypeQuality
all individuals: 3689
bin: 9.75e1
variant carriers: 95

GenotypeQuality
all individuals: 1826
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5895
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6290
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4551
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4601
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 8.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 91
allele frequency: 1.423164743048388e-3
allele num: 63942
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.042900919305414e-4
allele num: 9790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.10077519379845e-4
allele num: 6450
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.796299622777079e-4
allele num: 11134
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

QD
type: SiteQuality
SIO_000300: 1.55e1

DP
type: SiteQuality
SIO_000300: 1.51527e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.92e0

GenotypeQuality
all individuals: 2994
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13741
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4548
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5905
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4578
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63906
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.2465719272002e-4
allele num: 8022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16082
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 3.195e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.561e0

QD
type: SiteQuality
SIO_000300: 2.242e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.214e0

DP
type: SiteQuality
SIO_000300: 1.513239e6

VQSLOD
type: SiteQuality
SIO_000300: -3.315e0

MQ
type: SiteQuality
SIO_000300: 3.284e1

GenotypeQuality
all individuals: 3000
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3237
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12099
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5221
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2361
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5974
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.147722622682489e-5
allele num: 63538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16040
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11080
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.342e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.505771e6

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-2

FS
type: SiteQuality
SIO_000300: 5.772e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.71e-1

QD
type: SiteQuality
SIO_000300: 1.037e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e0

GenotypeQuality
all individuals: 1188
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 351
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variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2438
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 23604
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7659
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
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variant carriers: 0

GenotypeQuality
all individuals: 2986
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3366
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.385195579722856e-4
allele num: 11402
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.772635814889336e-4
allele num: 15904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 127
allele frequency: 1.933794195572068e-3
allele num: 65674
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.591368227731864e-4
allele num: 6534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.89383494189482e-4
allele num: 10154
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

DP
type: SiteQuality
SIO_000300: 1.947471e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 4.38e0

QD
type: SiteQuality
SIO_000300: 1.445e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1091
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9733
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3382
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4344
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
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variant carriers: 0

GenotypeQuality
all individuals: 24555
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2996
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
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: 6538
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.762705923589205e-5
allele num: 11412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65752
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.54e-1

MQ
type: SiteQuality
SIO_000300: 5.912e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e-1

QD
type: SiteQuality
SIO_000300: 1.022e1

DP
type: SiteQuality
SIO_000300: 1.955355e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

GenotypeQuality
all individuals: 627
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4335
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1080
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variant carriers: 0

GenotypeQuality
all individuals: 1531
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24713
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9735
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2443
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2992
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.399232245681382e-4
allele num: 8336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15974
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

FS
type: SiteQuality
SIO_000300: 1.093e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 1.957652e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

QD
type: SiteQuality
SIO_000300: 8.970000000000001e0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25083
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9736
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 542
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4343
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7796
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.786651008025054e-5
allele num: 10218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.92e0

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.943e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-1

FS
type: SiteQuality
SIO_000300: 2.342e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.649e0

DP
type: SiteQuality
SIO_000300: 1.96257e6

GenotypeQuality
all individuals: 826
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4356
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3004
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2442
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7839
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516438189979376e-5
allele num: 65944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.24e0

FS
type: SiteQuality
SIO_000300: 6.850000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-3

DP
type: SiteQuality
SIO_000300: 1.972817e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.291e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.92e-1

GenotypeQuality
all individuals: 321
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7890
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26075
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3412
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2442
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4367
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515518913676043e-5
allele num: 65984
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.043e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

QD
type: SiteQuality
SIO_000300: 9.34e0

MQ
type: SiteQuality
SIO_000300: 5.908e1

MQRankSum
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.973879e6

FS
type: SiteQuality
SIO_000300: 2.261e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

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

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66020
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Latino
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allele frequency: 0.0e0
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South Asian
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allele num: 16264
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East Asian
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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DP
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6554
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Latino
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allele frequency: 0.0e0
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Other
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

QD
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FS
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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SIO_000300: 1.983288e6

MQRankSum
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VQSLOD
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BaseQRankSum
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SIO_000300: -2.171e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.507295309296997e-5
allele num: 66344
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6558
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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Latino
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 6.77e0

ReadPosRankSum
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DP
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SIO_000300: 1.992168e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -3.428e0

InbreedingCoeff
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SIO_000300: 6.5e-3

FS
type: SiteQuality
SIO_000300: 1.744e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.223e0

VQSLOD
type: SiteQuality
SIO_000300: -1.371e0

MQRankSum
type: SiteQuality
SIO_000300: -9.83e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10370
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16492
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.505615947484116e-5
allele num: 66418
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-2

InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 4.24e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.996177e6

QD
type: SiteQuality
SIO_000300: 4.04e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66420
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.183151916706105e-4
allele num: 8452
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

South Asian
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allele count: 0
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

Other
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East Asian
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South Asian
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Latino
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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DP
type: SiteQuality
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MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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BaseQRankSum
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QD
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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allele num: 66404
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Latino
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African
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South Asian
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European (Finnish)
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East Asian
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QD
type: SiteQuality
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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FS
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66406
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South Asian
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DP
type: SiteQuality
SIO_000300: 1.996922e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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