12-113745457-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745457
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745457
    reference: chr 12
allele count: 1
allele frequency: 8.759482139415918e-6
allele num: 114162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.1020+39C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1411+39C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.939+39C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1411+39C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-45+39C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1243+39C>T
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25987
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP

12-113745460-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745460
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745460
    reference: chr 12
allele count: 11
allele frequency: 9.593246354566385e-5
allele num: 114664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1411+36G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.1020+36G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1243+36G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1411+36G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-45+36G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.939+36G>A
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13702
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26259
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

12-113745464-C-CCCCCACTCAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745464
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745474
    reference: chr 12
allele count: 1
allele frequency: 8.699131826643701e-6
allele num: 114954
alternate allele: CCCCCACTCAA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 8914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35403
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

12-113745464-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745464
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745464
    reference: chr 12
allele count: 3
allele frequency: 2.60973954799311e-5
allele num: 114954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.1020+32G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-45+32G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1411+32G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.939+32G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1411+32G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1243+32G>A
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8914
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/12-113745468-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745468
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745468
    reference: chr 12
allele count: 1
allele frequency: 8.664610265830243e-6
allele num: 115412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1411+28G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1411+28G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.1020+28G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-45+28G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1243+28G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.939+28G>T
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

12-113745468-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745468
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745468
    reference: chr 12
allele count: 1
allele frequency: 8.664610265830243e-6
allele num: 115412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-45+28G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1411+28G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.939+28G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1243+28G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1411+28G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.1020+28G>C
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 876
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 8345
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

12-113745468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745468
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745468
    reference: chr 12
allele count: 1
allele frequency: 8.664610265830243e-6
allele num: 115412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1243+28G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1411+28G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.1020+28G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1411+28G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-45+28G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.939+28G>A
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
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genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

12-113745480-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745480
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745480
    reference: chr 12
allele count: 9
allele frequency: 7.72306794583555e-5
allele num: 116534
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.1020+16G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1243+16G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.939+16G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1411+16G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-45+16G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1411+16G>C
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1916
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8483
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2624
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-113745481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745481
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745481
    reference: chr 12
allele count: 1
allele frequency: 8.572506257929568e-6
allele num: 116652
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1411+15G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.1020+15G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-45+15G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1411+15G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1243+15G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.939+15G>A
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37500
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8476
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS

http://identifiers.org/exac.variant/12-113745495-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745495
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745495
    reference: chr 12
allele count: 1
allele frequency: 8.466396870819716e-6
allele num: 118114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1243+1G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-45+1G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.1020+1G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.939+1G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1411+1G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1411+1G>T
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27899
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16867
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1411+1G>T
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

12-113745496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745496
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745496
    reference: chr 12
allele count: 1
allele frequency: 8.460952703274388e-6
allele num: 118190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1411G>A
  hgvsp: ENSP00000202831.3:p.Asp471Asn
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.1020G>A
  hgvsp: ENSP00000448758.1:p.Asp341Asn
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-45G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1411G>A
  hgvsp: ENSP00000447091.1:p.Asp471Asn
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1243G>A
  hgvsp: ENSP00000450081.1:p.Asp415Asn
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.939G>A
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp471Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-113745502-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745502
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745502
    reference: chr 12
allele count: 2
allele frequency: 1.683700099338306e-5
allele num: 118786
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-51A>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1237A>C
  hgvsp: ENSP00000450081.1:p.Ile413Leu
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1405A>C
  hgvsp: ENSP00000202831.3:p.Ile469Leu
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.1014A>C
  hgvsp: ENSP00000448758.1:p.Ile339Leu
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1405A>C
  hgvsp: ENSP00000447091.1:p.Ile469Leu
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.933A>C
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile469Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-113745506-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745506
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745506
    reference: chr 12
allele count: 1
allele frequency: 8.398562166157153e-6
allele num: 119068
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1401C>T
  hgvsp: ENST00000552014.1:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.929C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1233C>T
  hgvsp: ENST00000546737.1:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.1010C>T
  hgvsp: ENST00000550672.1:c.1010C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1401C>T
  hgvsp: ENST00000202831.3:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-55C>T
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8725
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn467Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

12-113745508-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745508
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745508
    reference: chr 12
allele count: 1
allele frequency: 8.393627557957998e-6
allele num: 119138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-57A>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.927A>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.1008A>G
  hgvsp: ENSP00000448758.1:p.Asn337Asp
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1399A>G
  hgvsp: ENSP00000447091.1:p.Asn467Asp
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1231A>G
  hgvsp: ENSP00000450081.1:p.Asn411Asp
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1399A>G
  hgvsp: ENSP00000202831.3:p.Asn467Asp
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8719
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn467Asp
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/12-113745510-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745510
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745510
    reference: chr 12
allele count: 1
allele frequency: 8.387432271484408e-6
allele num: 119226
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1397G>T
  hgvsp: ENSP00000447091.1:p.Gly466Val
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.1006G>T
  hgvsp: ENSP00000448758.1:p.Gly336Val
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1397G>T
  hgvsp: ENSP00000202831.3:p.Gly466Val
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1229G>T
  hgvsp: ENSP00000450081.1:p.Gly410Val
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.925G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-59G>T
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 28402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8740
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly466Val
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

12-113745513-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745513
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745513
    reference: chr 12
allele count: 1
allele frequency: 8.373666493610892e-6
allele num: 119422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1226G>C
  hgvsp: ENSP00000450081.1:p.Trp409Ser
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.1003G>C
  hgvsp: ENSP00000448758.1:p.Trp335Ser
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1394G>C
  hgvsp: ENSP00000447091.1:p.Trp465Ser
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.922G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-62G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1394G>C
  hgvsp: ENSP00000202831.3:p.Trp465Ser
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Trp465Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

12-113745525-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745525
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745525
    reference: chr 12
allele count: 1
allele frequency: 8.344737808338063e-6
allele num: 119836
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1382C>T
  hgvsp: ENSP00000447091.1:p.Thr461Met
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-74C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1382C>T
  hgvsp: ENSP00000202831.3:p.Thr461Met
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.910C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1214C>T
  hgvsp: ENSP00000450081.1:p.Thr405Met
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.991C>T
  hgvsp: ENSP00000448758.1:p.Thr331Met
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr461Met
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-113745529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745529
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745529
    reference: chr 12
allele count: 53
allele frequency: 4.420718992409709e-4
allele num: 119890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.906C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.987C>T
  hgvsp: ENSP00000448758.1:p.Leu330Phe
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1210C>T
  hgvsp: ENSP00000450081.1:p.Leu404Phe
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1378C>T
  hgvsp: ENSP00000202831.3:p.Leu460Phe
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-78C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1378C>T
  hgvsp: ENSP00000447091.1:p.Leu460Phe
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9221
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 9.75e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu460Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

12-113745535-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745535
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745535
    reference: chr 12
allele count: 1
allele frequency: 8.340561820244212e-6
allele num: 119896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.981C>G
  hgvsp: ENSP00000448758.1:p.Leu328Val
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1204C>G
  hgvsp: ENSP00000450081.1:p.Leu402Val
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-84C>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.900C>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1372C>G
  hgvsp: ENSP00000202831.3:p.Leu458Val
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1372C>G
  hgvsp: ENSP00000447091.1:p.Leu458Val
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu458Val
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-113745539-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745539
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745539
    reference: chr 12
allele count: 23
allele frequency: 1.918009273157877e-4
allele num: 119916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1200T>C
  hgvsp: ENST00000546737.1:c.1200T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.977T>C
  hgvsp: ENST00000550672.1:c.977T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1368T>C
  hgvsp: ENST00000552014.1:c.1368T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.896T>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-88T>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1368T>C
  hgvsp: ENST00000202831.3:c.1368T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29083
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr456Thr
num of homozygotes: 1
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-113745540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745540
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745540
    reference: chr 12
allele count: 1
allele frequency: 8.339727124128499e-6
allele num: 119908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.895C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1367C>T
  hgvsp: ENSP00000202831.3:p.Thr456Ile
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-89C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.976C>T
  hgvsp: ENSP00000448758.1:p.Thr326Ile
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1199C>T
  hgvsp: ENSP00000450081.1:p.Thr400Ile
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1367C>T
  hgvsp: ENSP00000447091.1:p.Thr456Ile
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41542
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr456Ile
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

12-113745540-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745540
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745540
    reference: chr 12
allele count: 1
allele frequency: 8.339727124128499e-6
allele num: 119908
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1367C>G
  hgvsp: ENSP00000447091.1:p.Thr456Ser
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.895C>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-89C>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.976C>G
  hgvsp: ENSP00000448758.1:p.Thr326Ser
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1199C>G
  hgvsp: ENSP00000450081.1:p.Thr400Ser
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1367C>G
  hgvsp: ENSP00000202831.3:p.Thr456Ser
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41542
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr456Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

12-113745542-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745542
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745542
    reference: chr 12
allele count: 2
allele frequency: 1.667917604870319e-5
allele num: 119910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1365C>T
  hgvsp: ENST00000202831.3:c.1365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.893C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1197C>T
  hgvsp: ENST00000546737.1:c.1197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1365C>T
  hgvsp: ENST00000552014.1:c.1365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-91C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.974C>T
  hgvsp: ENST00000550672.1:c.974C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Asn455Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

12-113745552-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745552
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745552
    reference: chr 12
allele count: 5
allele frequency: 4.172020759975301e-5
allele num: 119846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.964G>C
  hgvsp: ENSP00000448758.1:p.Arg322Pro
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1355G>C
  hgvsp: ENSP00000447091.1:p.Arg452Pro
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1187G>C
  hgvsp: ENSP00000450081.1:p.Arg396Pro
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1355G>C
  hgvsp: ENSP00000202831.3:p.Arg452Pro
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.883G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-101G>C
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9249
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg452Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-113745552-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745552
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745552
    reference: chr 12
allele count: 7
allele frequency: 5.840829063965422e-5
allele num: 119846
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1355G>A
  hgvsp: ENSP00000447091.1:p.Arg452Gln
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.883G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.964G>A
  hgvsp: ENSP00000448758.1:p.Arg322Gln
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-101G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1355G>A
  hgvsp: ENSP00000202831.3:p.Arg452Gln
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1187G>A
  hgvsp: ENSP00000450081.1:p.Arg396Gln
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg452Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

12-113745553-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745553
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745553
    reference: chr 12
allele count: 2
allele frequency: 1.669031127430527e-5
allele num: 119830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.882C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.963C>T
  hgvsp: ENSP00000448758.1:p.Arg322Trp
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1186C>T
  hgvsp: ENSP00000450081.1:p.Arg396Trp
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-102C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1354C>T
  hgvsp: ENSP00000202831.3:p.Arg452Trp
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1354C>T
  hgvsp: ENSP00000447091.1:p.Arg452Trp
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg452Trp
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-113745554-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745554
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745554
    reference: chr 12
allele count: 2
allele frequency: 1.668864004272292e-5
allele num: 119842
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.881C>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-103C>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1353C>G
  hgvsp: ENSP00000202831.3:p.Phe451Leu
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.962C>G
  hgvsp: ENSP00000448758.1:p.Phe321Leu
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1185C>G
  hgvsp: ENSP00000450081.1:p.Phe395Leu
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1353C>G
  hgvsp: ENSP00000447091.1:p.Phe451Leu
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe451Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-113745554-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745554
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745554
    reference: chr 12
allele count: 1
allele frequency: 8.34432002136146e-6
allele num: 119842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.962C>A
  hgvsp: ENSP00000448758.1:p.Phe321Leu
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-103C>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1353C>A
  hgvsp: ENSP00000447091.1:p.Phe451Leu
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.881C>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1185C>A
  hgvsp: ENSP00000450081.1:p.Phe395Leu
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1353C>A
  hgvsp: ENSP00000202831.3:p.Phe451Leu
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe451Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-113745555-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745555
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745555
    reference: chr 12
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-104T>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1352T>C
  hgvsp: ENSP00000447091.1:p.Phe451Ser
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1352T>C
  hgvsp: ENSP00000202831.3:p.Phe451Ser
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.961T>C
  hgvsp: ENSP00000448758.1:p.Phe321Ser
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1184T>C
  hgvsp: ENSP00000450081.1:p.Phe395Ser
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.880T>C
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe451Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

12-113745562-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745562
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745562
    reference: chr 12
allele count: 1
allele frequency: 8.355056480181806e-6
allele num: 119688
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1345G>A
  hgvsp: ENSP00000447091.1:p.Val449Met
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1177G>A
  hgvsp: ENSP00000450081.1:p.Val393Met
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1345G>A
  hgvsp: ENSP00000202831.3:p.Val449Met
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-111G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.873G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.954G>A
  hgvsp: ENSP00000448758.1:p.Val319Met
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41513
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val449Met
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

12-113745562-CACCCAGGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745562
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745554
    reference: chr 12
allele count: 1
allele frequency: 8.355056480181806e-6
allele num: 119688
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsp: ENSP00000447091.1:p.Ser446CysfsTer127
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsp: ENSP00000202831.3:p.Ser446CysfsTer127
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.946_953delCCCTGGGT
  hgvsp: ENSP00000448758.1:p.Ser316CysfsTer149
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsp: ENSP00000450081.1:p.Ser390CysfsTer127
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.865_872delCCCTGGGT
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser446CysfsTer127
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: CACCCAGGG
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

12-113745564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745564
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745564
    reference: chr 12
allele count: 1
allele frequency: 8.357290900581667e-6
allele num: 119656
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.952G>A
  hgvsp: ENSP00000448758.1:p.Gly318Asp
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1343G>A
  hgvsp: ENSP00000202831.3:p.Gly448Asp
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1175G>A
  hgvsp: ENSP00000450081.1:p.Gly392Asp
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1343G>A
  hgvsp: ENSP00000447091.1:p.Gly448Asp
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-113G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.871G>A
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly448Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

12-113745566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745566
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745566
    reference: chr 12
allele count: 1
allele frequency: 8.360085607276618e-6
allele num: 119616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.950G>A
  hgvsp: ENST00000550672.1:c.950G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.869G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1341G>A
  hgvsp: ENST00000552014.1:c.1341G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1173G>A
  hgvsp: ENST00000546737.1:c.1173G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-115G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1341G>A
  hgvsp: ENST00000202831.3:c.1341G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu447Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-113745567-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745567
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745567
    reference: chr 12
allele count: 1
allele frequency: 8.360924383799873e-6
allele num: 119604
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1172T>G
  hgvsp: ENSP00000450081.1:p.Leu391Arg
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.868T>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.949T>G
  hgvsp: ENSP00000448758.1:p.Leu317Arg
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1340T>G
  hgvsp: ENSP00000202831.3:p.Leu447Arg
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-116T>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1340T>G
  hgvsp: ENSP00000447091.1:p.Leu447Arg
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu447Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum

12-113745570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745570
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745570
    reference: chr 12
allele count: 1
allele frequency: 8.362462577979963e-6
allele num: 119582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1337C>T
  hgvsp: ENSP00000202831.3:p.Ser446Phe
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1169C>T
  hgvsp: ENSP00000450081.1:p.Ser390Phe
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.946C>T
  hgvsp: ENSP00000448758.1:p.Ser316Phe
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1337C>T
  hgvsp: ENSP00000447091.1:p.Ser446Phe
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-119C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.865C>T
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser446Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-113745574-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745574
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745574
    reference: chr 12
allele count: 12
allele frequency: 1.004100075307506e-4
allele num: 119510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1165C>T
  hgvsp: ENSP00000450081.1:p.Arg389Trp
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1333C>T
  hgvsp: ENSP00000202831.3:p.Arg445Trp
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1333C>T
  hgvsp: ENSP00000447091.1:p.Arg445Trp
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.942C>T
  hgvsp: ENSP00000448758.1:p.Arg315Trp
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.861C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-123C>T
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29190
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9241
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41463
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg445Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

12-113745574-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745574
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745574
    reference: chr 12
allele count: 1
allele frequency: 8.367500627562547e-6
allele num: 119510
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1333C>G
  hgvsp: ENSP00000447091.1:p.Arg445Gly
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1165C>G
  hgvsp: ENSP00000450081.1:p.Arg389Gly
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.942C>G
  hgvsp: ENSP00000448758.1:p.Arg315Gly
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-123C>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.861C>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1333C>G
  hgvsp: ENSP00000202831.3:p.Arg445Gly
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41463
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg445Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-113745585-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745585
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745585
    reference: chr 12
allele count: 6
allele frequency: 5.033219247030401e-5
allele num: 119208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1154T>G
  hgvsp: ENSP00000450081.1:p.Val385Gly
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.931T>G
  hgvsp: ENSP00000448758.1:p.Val311Gly
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-134T>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1322T>G
  hgvsp: ENSP00000447091.1:p.Val441Gly
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1322T>G
  hgvsp: ENSP00000202831.3:p.Val441Gly
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.850T>G
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val441Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-113745587-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745587
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745587
    reference: chr 12
allele count: 10
allele frequency: 8.392641332080032e-5
allele num: 119152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.848G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1320G>A
  hgvsp: ENST00000202831.3:c.1320G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1320G>A
  hgvsp: ENST00000552014.1:c.1320G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.929G>A
  hgvsp: ENST00000550672.1:c.929G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-136G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1152G>A
  hgvsp: ENST00000546737.1:c.1152G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41083
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val440Val
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-113745588-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745588
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745588
    reference: chr 12
allele count: 1
allele frequency: 8.395882659143956e-6
allele num: 119106
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1319T>G
  hgvsp: ENSP00000447091.1:p.Val440Gly
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1151T>G
  hgvsp: ENSP00000450081.1:p.Val384Gly
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-137T>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.847T>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1319T>G
  hgvsp: ENSP00000202831.3:p.Val440Gly
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.928T>G
  hgvsp: ENSP00000448758.1:p.Val310Gly
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val440Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-113745593-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745593
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745593
    reference: chr 12
allele count: 2
allele frequency: 1.683388324018585e-5
allele num: 118808
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-142A>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.923A>G
  hgvsp: ENST00000550672.1:c.923A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1314A>G
  hgvsp: ENST00000552014.1:c.1314A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1314A>G
  hgvsp: ENST00000202831.3:c.1314A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.842A>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1146A>G
  hgvsp: ENST00000546737.1:c.1146A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr438Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

12-113745598-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745598
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745598
    reference: chr 12
allele count: 7
allele frequency: 5.900799136797384e-5
allele num: 118628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-147G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1141G>A
  hgvsp: ENSP00000450081.1:p.Ala381Thr
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1309G>A
  hgvsp: ENSP00000202831.3:p.Ala437Thr
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.918G>A
  hgvsp: ENSP00000448758.1:p.Ala307Thr
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1309G>A
  hgvsp: ENSP00000447091.1:p.Ala437Thr
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.837G>A
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala437Thr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-113745599-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745599
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745599
    reference: chr 12
allele count: 2
allele frequency: 1.686198465559396e-5
allele num: 118610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-148C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.836C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1308C>T
  hgvsp: ENST00000552014.1:c.1308C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1140C>T
  hgvsp: ENST00000546737.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.917C>T
  hgvsp: ENST00000550672.1:c.917C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1308C>T
  hgvsp: ENST00000202831.3:c.1308C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala436Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

12-113745602-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745602
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745602
    reference: chr 12
allele count: 8
allele frequency: 6.752536421493324e-5
allele num: 118474
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1305G>A
  hgvsp: ENST00000552014.1:c.1305G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.833G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-151G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1137G>A
  hgvsp: ENST00000546737.1:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.914G>A
  hgvsp: ENST00000550672.1:c.914G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1305G>A
  hgvsp: ENST00000202831.3:c.1305G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28691
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala435Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

12-113745603-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745603
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745603
    reference: chr 12
allele count: 2
allele frequency: 1.688533171234149e-5
allele num: 118446
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.832C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1304C>T
  hgvsp: ENSP00000202831.3:p.Ala435Val
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-152C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1304C>T
  hgvsp: ENSP00000447091.1:p.Ala435Val
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.913C>T
  hgvsp: ENSP00000448758.1:p.Ala305Val
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1136C>T
  hgvsp: ENSP00000450081.1:p.Ala379Val
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala435Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

12-113745604-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745604
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745604
    reference: chr 12
allele count: 1
allele frequency: 8.445375312478886e-6
allele num: 118408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1303G>A
  hgvsp: ENSP00000447091.1:p.Ala435Thr
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.831G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-153G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.912G>A
  hgvsp: ENSP00000448758.1:p.Ala305Thr
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1303G>A
  hgvsp: ENSP00000202831.3:p.Ala435Thr
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1135G>A
  hgvsp: ENSP00000450081.1:p.Ala379Thr
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala435Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

12-113745605-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745605
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745605
    reference: chr 12
allele count: 1
allele frequency: 8.445803280349994e-6
allele num: 118402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1675C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1302C>T
  hgvsp: ENST00000552014.1:c.1302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1134C>T
  hgvsp: ENST00000546737.1:c.1134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1302C>T
  hgvsp: ENST00000202831.3:c.1302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.830C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.911C>T
  hgvsp: ENST00000550672.1:c.911C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-154C>T
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn434Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/12-113745613-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745613
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745613
    reference: chr 12
allele count: 1
allele frequency: 8.468691248454463e-6
allele num: 118082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.822T>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.903T>G
  hgvsp: ENSP00000448758.1:p.Trp302Gly
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1294T>G
  hgvsp: ENSP00000202831.3:p.Trp432Gly
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1294T>G
  hgvsp: ENSP00000447091.1:p.Trp432Gly
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1667T>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1126T>G
  hgvsp: ENSP00000450081.1:p.Trp376Gly
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-162T>G
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp432Gly
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

12-113745622-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745622
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745622
    reference: chr 12
allele count: 9
allele frequency: 7.648508540834538e-5
allele num: 117670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.894A>G
  hgvsp: ENSP00000448758.1:p.Ser299Gly
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1658A>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1285A>G
  hgvsp: ENSP00000447091.1:p.Ser429Gly
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1285A>G
  hgvsp: ENSP00000202831.3:p.Ser429Gly
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-171A>G
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1117A>G
  hgvsp: ENSP00000450081.1:p.Ser373Gly
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.813A>G
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser429Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-113745653-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745653
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745653
    reference: chr 12
allele count: 2
allele frequency: 1.746511343591177e-5
allele num: 114514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1627G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-202G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1090-4G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.786-4G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.867-4G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1258-4G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1258-4G>A
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25502
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5090
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1258-4G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

12-113745654-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745654
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745654
    reference: chr 12
allele count: 6
allele frequency: 5.249160134378499e-5
allele num: 114304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1258-5C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.786-5C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-203C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1090-5C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.867-5C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1258-5C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1626C>T
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25093
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1258-5C>T
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-113745669-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745669
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745669
    reference: chr 12
allele count: 2
allele frequency: 1.774937877174299e-5
allele num: 112680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.786-20G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1258-20G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-218G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1258-20G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1611G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1090-20G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.867-20G>A
  variant of: http://identifiers.org/hgnc/26175
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12000
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5788
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD

12-113745683-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745683
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745683
    reference: chr 12
allele count: 9
allele frequency: 8.123623497129654e-5
allele num: 110788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1090-34G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1597G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-232G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.786-34G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1258-34G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.867-34G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1258-34G>C
  variant of: http://identifiers.org/hgnc/26175
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12589
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14045
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11862
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9850
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum

12-113745696-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113745696
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113745696
    reference: chr 12
allele count: 1
allele frequency: 9.164726799494107e-6
allele num: 109114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.786-47C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.867-47C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447585
  ensembl transcript: ENST00000550047
  gene symbol: SLC8B1
  hgvsc: ENST00000550047.1:c.-245C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1584C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1258-47C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1090-47C>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1258-47C>T
  variant of: http://identifiers.org/hgnc/26175
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11805
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7028
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/12-113747996-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113747996
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113747997
    reference: chr 12
allele count: 1
allele frequency: 8.627085597943303e-6
allele num: 115914
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1257+42dupT
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.866+42dupT
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1257+42dupT
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.785+42dupT
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1562+42dupT
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1089+42dupT
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8245
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

12-113748003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113748003
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113748003
    reference: chr 12
allele count: 1
allele frequency: 8.607629803057431e-6
allele num: 116176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.785+36G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1562+36G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1089+36G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1257+36G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.866+36G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1257+36G>A
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8293
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18466
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

12-113748005-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113748005
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113748006
    reference: chr 12
allele count: 191
allele frequency: 1.715743518801315e-3
allele num: 111322
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1562+33dupG
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.785+33dupG
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1257+33dupG
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1089+33dupG
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.866+33dupG
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1257+33dupG
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 10395
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 4.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8460
  bin: 3.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 2.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6643
  bin: 2.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 2.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 2.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 3920
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 7.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 5.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 7298
  bin: 6.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 3.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 1.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 7.25e1
  variant carriers: 8
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-113748005-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113748005
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113748004
    reference: chr 12
allele count: 28
allele frequency: 2.515226100860567e-4
allele num: 111322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1562+33delG
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.785+33delG
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1089+33delG
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1257+33delG
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.866+33delG
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1257+33delG
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8460
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10395
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6643
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17518
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3920
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: TC
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

12-113748005-TCCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113748005
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113748002
    reference: chr 12
allele count: 2
allele frequency: 1.796590072043262e-5
allele num: 111322
alternate allele: T
canonical: false
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17518
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9736
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 814
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12528
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8272
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: TCCC
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

12-113748006-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113748006
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113748006
    reference: chr 12
allele count: 4
allele frequency: 3.572321651841532e-5
allele num: 111972
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1257+33G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1562+33G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.785+33G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1089+33G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.866+33G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1257+33G>C
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9073
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17705
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-113748006-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113748006
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113748006
    reference: chr 12
allele count: 1
allele frequency: 8.930804129603829e-6
allele num: 111972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1089+33G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1562+33G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.785+33G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.866+33G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1257+33G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1257+33G>A
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17705
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-113748010-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113748010
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113748010
    reference: chr 12
allele count: 15
allele frequency: 1.278597974700808e-4
allele num: 117316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1257+29G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1257+29G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.785+29G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1089+29G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1562+29G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.866+29G>T
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19148
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4429
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-113748010-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113748010
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113748010
    reference: chr 12
allele count: 15
allele frequency: 1.278597974700808e-4
allele num: 117316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.866+29G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1257+29G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1562+29G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.785+29G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1089+29G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1257+29G>C
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10462
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4429
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-113748010-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113748010
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113748010
    reference: chr 12
allele count: 2
allele frequency: 1.704797299601078e-5
allele num: 117316
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1257+29G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.866+29G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1089+29G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1562+29G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.785+29G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1257+29G>A
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-113748011-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113748011
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113748011
    reference: chr 12
allele count: 23
allele frequency: 1.958980648678114e-4
allele num: 117408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1257+28G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.866+28G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1562+28G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.785+28G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1257+28G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1089+28G>T
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10491
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8640
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4716
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4429
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-113748011-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113748011
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113748011
    reference: chr 12
allele count: 81
allele frequency: 6.899018806214227e-4
allele num: 117408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.785+28G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1089+28G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1257+28G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.866+28G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1562+28G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1257+28G>C
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9267
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10491
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8640
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5601
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4716
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

12-113748011-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113748011
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113748011
    reference: chr 12
allele count: 13
allele frequency: 1.107249931861543e-4
allele num: 117408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.785+28G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1562+28G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1257+28G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1089+28G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.866+28G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1257+28G>A
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10491
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8640
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19215
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5601
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-113748012-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113748012
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113748012
    reference: chr 12
allele count: 33
allele frequency: 2.809610570946924e-4
allele num: 117454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1257+27G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.785+27G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1257+27G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1562+27G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1089+27G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.866+27G>T
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10518
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19204
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

12-113748012-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113748012
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113748012
    reference: chr 12
allele count: 13
allele frequency: 1.106816285524546e-4
allele num: 117454
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1562+27G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1089+27G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1257+27G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.785+27G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.866+27G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1257+27G>C
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19204
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4430
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-113748012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113748012
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113748012
    reference: chr 12
allele count: 1
allele frequency: 8.51397142711189e-6
allele num: 117454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1089+27G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1257+27G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.866+27G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1562+27G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1257+27G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.785+27G>A
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10518
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

12-113748013-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113748013
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113748013
    reference: chr 12
allele count: 15
allele frequency: 1.276791338247561e-4
allele num: 117482
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.785+26G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1257+26G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1089+26G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.866+26G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1562+26G>C
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1257+26G>C
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9306
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10533
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-113748013-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113748013
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113748013
    reference: chr 12
allele count: 2
allele frequency: 1.702388450996748e-5
allele num: 117482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.866+26G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1257+26G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1089+26G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1562+26G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.785+26G>T
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1257+26G>T
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3647
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

12-113748013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113748013
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113748013
    reference: chr 12
allele count: 1
allele frequency: 8.511942254983741e-6
allele num: 117482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000553238
  gene symbol: SLC8B1
  hgvsc: ENST00000553238.1:n.1562+26G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000202831
  ensembl transcript: ENST00000202831
  gene symbol: SLC8B1
  hgvsc: ENST00000202831.3:c.1257+26G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl transcript: ENST00000552565
  gene symbol: SLC8B1
  hgvsc: ENST00000552565.1:n.785+26G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000450081
  ensembl transcript: ENST00000546737
  gene symbol: SLC8B1
  hgvsc: ENST00000546737.1:c.1089+26G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000448758
  ensembl transcript: ENST00000550672
  gene symbol: SLC8B1
  hgvsc: ENST00000550672.1:c.866+26G>A
  variant of: http://identifiers.org/hgnc/26175
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089060
  ensembl protein: ENSP00000447091
  ensembl transcript: ENST00000552014
  gene symbol: SLC8B1
  hgvsc: ENST00000552014.1:c.1257+26G>A
  variant of: http://identifiers.org/hgnc/26175
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 1274
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1354
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2605
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8239
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2461
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12788
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: 820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560792882784454e-5
allele num: 64070
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.049e1

MQRankSum
type: SiteQuality
SIO_000300: -6.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.065e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

FS
type: SiteQuality
SIO_000300: 6.089e0

DP
type: SiteQuality
SIO_000300: 1.532818e6

GenotypeQuality
all individuals: 319
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34257
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2604
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8325
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13054
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.620430295609586e-4
allele num: 11434
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64232
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.617e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.88e-1

QD
type: SiteQuality
SIO_000300: 1.009e1

MQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

FS
type: SiteQuality
SIO_000300: 8.853e0

VQSLOD
type: SiteQuality
SIO_000300: -1.906e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 1.534373e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 7.75e1
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GenotypeQuality
all individuals: 1270
bin: 9.75e1
variant carriers: 1

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

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

South Asian
type: Population
allele count: 1
allele frequency: 7.53465943339361e-5
allele num: 13272
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64306
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -7.379e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.98e-1

FS
type: SiteQuality
SIO_000300: 1.6769e1

QD
type: SiteQuality
SIO_000300: 8.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.226e0

DP
type: SiteQuality
SIO_000300: 1.541759e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13272
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64306
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.623294858342078e-4
allele num: 11436
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.6769e1

QD
type: SiteQuality
SIO_000300: 8.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.379e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.226e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

DP
type: SiteQuality
SIO_000300: 1.541759e6

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.920634920634921e-5
allele num: 10080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.039e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

QD
type: SiteQuality
SIO_000300: 9.99e0

FS
type: SiteQuality
SIO_000300: 9.692e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.404e0

DP
type: SiteQuality
SIO_000300: 1.546738e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

GenotypeQuality
all individuals: 293
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1283
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GenotypeQuality
all individuals: 118
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551542232979582e-5
allele num: 64452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.99e0

FS
type: SiteQuality
SIO_000300: 9.692e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.039e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.404e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 1.546738e6

GenotypeQuality
all individuals: 2458
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 876
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variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.381163271331562e-5
allele num: 13548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.039e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

DP
type: SiteQuality
SIO_000300: 1.546738e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.404e0

FS
type: SiteQuality
SIO_000300: 9.692e0

MQ
type: SiteQuality
SIO_000300: 5.887e1

QD
type: SiteQuality
SIO_000300: 9.99e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

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

Latino
type: Population
allele count: 9
allele frequency: 7.85203280404816e-4
allele num: 11462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14250
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

FS
type: SiteQuality
SIO_000300: 9.013999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.06e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.566909e6

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
all individuals: 220
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GenotypeQuality
all individuals: 126
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.873617693522907e-5
allele num: 10128
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14332
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

MQRankSum
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ReadPosRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 1.899e0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8524
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65242
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.548788474132285e-5
allele num: 15270
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.917e1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65270
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
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South Asian
type: Population
allele count: 1
allele frequency: 6.528267397832615e-5
allele num: 15318
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.593861e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.741553465691397e-4
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65466
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15674
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.264e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.28e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2525
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15888
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526158354190831e-5
allele num: 65524
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: 11490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.38e-1

FS
type: SiteQuality
SIO_000300: 4.901e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.897e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

DP
type: SiteQuality
SIO_000300: 1.60655e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.719e-1

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.525832341542311e-5
allele num: 65538
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.608258e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 2.113e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: -1.091e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.756e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 9.58e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.247657128576784e-5
allele num: 16006
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65562
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.637e0

QD
type: SiteQuality
SIO_000300: 1.361e1

BaseQRankSum
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SIO_000300: -1.016e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.386e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: -2.695e0

DP
type: SiteQuality
SIO_000300: 1.610598e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8546
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South Asian
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allele count: 1
allele frequency: 6.194251734390486e-5
allele num: 16144
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65612
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.613825e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.081e0

FS
type: SiteQuality
SIO_000300: 3.979e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: -9.083e-1

QD
type: SiteQuality
SIO_000300: 1.478e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.027e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1254
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.83671060397403e-5
allele num: 10166
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
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: 6576
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: 1.62239e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.664e0

QD
type: SiteQuality
SIO_000300: 1.964e1

FS
type: SiteQuality
SIO_000300: 1.231e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.52e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.38e-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
all individuals: 511
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65766
num of homozygotes: 0

African
type: Population
allele count: 50
allele frequency: 4.916420845624385e-3
allele num: 10170
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.611420612813371e-4
allele num: 11488
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.308e1

VQSLOD
type: SiteQuality
SIO_000300: 4.02e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

DP
type: SiteQuality
SIO_000300: 1.625283e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.426e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

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
all individuals: 92
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GenotypeQuality
all individuals: 451
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.52031135976648e-5
allele num: 65776
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.884e1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.12e-1

QD
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.623844e6

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.519803033526855e-5
allele num: 65798
num of homozygotes: 0

Other
type: Population
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South Asian
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allele frequency: 1.153472559494901e-3
allele num: 16472
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European (Finnish)
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allele count: 2
allele frequency: 3.038590094196293e-4
allele num: 6582
num of homozygotes: 0

African
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allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.89e-2

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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
all individuals: 77
bin: 4.75e1
variant carriers: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
type: Population
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.519941634241245e-5
allele num: 65792
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
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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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519941634241245e-5
allele num: 65792
num of homozygotes: 0

South Asian
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allele num: 16470
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.519618271890101e-5
allele num: 65806
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.136e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.001e0

VQSLOD
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SIO_000300: -2.149e0

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

InbreedingCoeff
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SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

DP
type: SiteQuality
SIO_000300: 1.624593e6

MQ
type: SiteQuality
SIO_000300: 5.894e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.446e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.604562737642586e-5
allele num: 65750
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.084e1

FS
type: SiteQuality
SIO_000300: 1.119e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

InbreedingCoeff
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SIO_000300: 4.0e-4

MQRankSum
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SIO_000300: 5.1e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

VQSLOD
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SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 1.624714e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-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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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.604562737642586e-5
allele num: 65750
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.214624073849144e-4
allele num: 16466
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.084e1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

DP
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SIO_000300: 1.624714e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

FS
type: SiteQuality
SIO_000300: 1.119e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.16e-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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.521190179196203e-5
allele num: 65738
num of homozygotes: 0

East Asian
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allele frequency: 1.171234481143125e-4
allele num: 8538
num of homozygotes: 0

Latino
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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
allele num: 892
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.442e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.84e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.09e-1

BaseQRankSum
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SIO_000300: 2.15e0

MQRankSum
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SIO_000300: 7.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.62e0

InbreedingCoeff
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SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 2.853e1

DP
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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65746
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 3.036744609778318e-4
allele num: 6586
num of homozygotes: 0

Latino
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: 892
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 5.699e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.53e-1

DP
type: SiteQuality
SIO_000300: 1.624215e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-2

QD
type: SiteQuality
SIO_000300: 1.325e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521005080156968e-5
allele num: 65746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-2

DP
type: SiteQuality
SIO_000300: 1.624215e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.06e-1

QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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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bin: 9.75e1
variant carriers: 1

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65744
num of homozygotes: 0

East Asian
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allele frequency: 1.171508903467666e-4
allele num: 8536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.624093e6

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.19e0

MQ
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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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
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allele num: 8526
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.523136442562525e-5
allele num: 65654
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.25e0

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 4.0e-4

MQ
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65654
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65642
num of homozygotes: 0

Latino
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allele frequency: 8.719916288803627e-5
allele num: 11468
num of homozygotes: 0

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

East Asian
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allele num: 8524
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Other
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allele num: 890
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.622369e6

BaseQRankSum
type: SiteQuality
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.09e0

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: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 8833
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2605
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523925632429137e-5
allele num: 65620
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.621802e6

VQSLOD
type: SiteQuality
SIO_000300: -1.114e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.419e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.278e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.646e0

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

GenotypeQuality
all individuals: 8836
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
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GenotypeQuality
all individuals: 97
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.902951079421667e-5
allele num: 10098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65614
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.643e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.184e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.075e1

FS
type: SiteQuality
SIO_000300: 5.555e0

DP
type: SiteQuality
SIO_000300: 1.621364e6

MQRankSum
type: SiteQuality
SIO_000300: -1.676e0

GenotypeQuality
all individuals: 2484
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
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GenotypeQuality
all individuals: 1301
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524390243902439e-5
allele num: 65600
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.27e0

VQSLOD
type: SiteQuality
SIO_000300: -8.419e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.621388e6

FS
type: SiteQuality
SIO_000300: 3.359e0

MQ
type: SiteQuality
SIO_000300: 5.908e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.72e-1

GenotypeQuality
all individuals: 1175
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 9.75e1
variant carriers: 12

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.521606816798539e-4
allele num: 6572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.678005918784513e-4
allele num: 65554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.621229e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.18e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

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

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52545992616774e-5
allele num: 65554
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

DP
type: SiteQuality
SIO_000300: 1.621229e6

QD
type: SiteQuality
SIO_000300: 1.218e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.09e-1

GenotypeQuality
all individuals: 181
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 1297
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variant carriers: 0

GenotypeQuality
all individuals: 2587
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GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 500
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.177399125087951e-5
allele num: 65378
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: 10020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.41e-1

QD
type: SiteQuality
SIO_000300: 1.265e1

DP
type: SiteQuality
SIO_000300: 1.616106e6

VQSLOD
type: SiteQuality
SIO_000300: 3.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
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GenotypeQuality
all individuals: 1208
bin: 9.75e1
variant carriers: 10

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2585
bin: 7.75e1
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GenotypeQuality
all individuals: 200
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variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 500
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.742787200559538e-5
allele num: 11438
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
num of homozygotes: 0

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

South Asian
type: Population
allele count: 9
allele frequency: 5.475118627570264e-4
allele num: 16438
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65350
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.947e0

QD
type: SiteQuality
SIO_000300: 1.154e1

VQSLOD
type: SiteQuality
SIO_000300: 8.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.748e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.615043e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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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: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1198
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65328
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.179523472517103e-4
allele num: 8478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.12e0

QD
type: SiteQuality
SIO_000300: 1.403e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

DP
type: SiteQuality
SIO_000300: 1.614076e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.84e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1194
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2436
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.070781513895286e-5
allele num: 65130
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.567e0

DP
type: SiteQuality
SIO_000300: 1.607906e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.049e0

FS
type: SiteQuality
SIO_000300: 7.844e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.569999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1191
bin: 9.75e1
variant carriers: 7

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 498
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variant carriers: 0

GenotypeQuality
all individuals: 8577
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.258545135845749e-4
allele num: 11410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.181753722524226e-4
allele num: 8462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65036
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9892
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.604073e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.25e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 5.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

GenotypeQuality
all individuals: 40023
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2428
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2549
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.218323586744639e-4
allele num: 16416
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.168e0

DP
type: SiteQuality
SIO_000300: 1.602711e6

MQ
type: SiteQuality
SIO_000300: 5.902e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.261e0

QD
type: SiteQuality
SIO_000300: 1.142e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

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

GenotypeQuality
all individuals: 255
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 443
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.079481415329658e-5
allele num: 64946
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.183992422448496e-4
allele num: 8446
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.069965524234435e-4
allele num: 9862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.599562e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

FS
type: SiteQuality
SIO_000300: 7.131e0

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 1.135e1

GenotypeQuality
all individuals: 443
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 494
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
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: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540215014015957e-5
allele num: 64926
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.01419878296146e-4
allele num: 9860
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: 6522
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.892e0

VQSLOD
type: SiteQuality
SIO_000300: 6.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 5.234e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.72e-1

QD
type: SiteQuality
SIO_000300: 1.238e1

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.598912e6

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541022005794243e-5
allele num: 64892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

DP
type: SiteQuality
SIO_000300: 1.59792e6

VQSLOD
type: SiteQuality
SIO_000300: 5.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.163e0

QD
type: SiteQuality
SIO_000300: 1.043e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.112e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 40281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
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variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
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variant carriers: 0

GenotypeQuality
all individuals: 8550
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64892
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.18427285646613e-4
allele num: 8444
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.825e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.953e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

FS
type: SiteQuality
SIO_000300: 4.575e0

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

DP
type: SiteQuality
SIO_000300: 1.597745e6

GenotypeQuality
all individuals: 440
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
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GenotypeQuality
all individuals: 8509
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variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 490
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.186239620403321e-4
allele num: 8430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64708
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.383e-1

DP
type: SiteQuality
SIO_000300: 1.591775e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.516e0

MQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.197e1

GenotypeQuality
all individuals: 404
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
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variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 2471
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GenotypeQuality
all individuals: 200
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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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variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2330
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variant carriers: 0

GenotypeQuality
all individuals: 39681
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.395478649176668e-4
allele num: 64494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.214e1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

DP
type: SiteQuality
SIO_000300: 1.583466e6

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.199e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 2.717e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.09e-1

GenotypeQuality
all individuals: 34728
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2193
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1626
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2033
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GenotypeQuality
all individuals: 1140
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.173494970010472e-5
allele num: 63022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.687e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 1.49066e6

MQ
type: SiteQuality
SIO_000300: 5.916e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 9.02e0

GenotypeQuality
all individuals: 609
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 924
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variant carriers: 0

GenotypeQuality
all individuals: 177
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variant carriers: 0

GenotypeQuality
all individuals: 1532
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variant carriers: 0

GenotypeQuality
all individuals: 326
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GenotypeQuality
all individuals: 579
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GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 2010
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GenotypeQuality
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GenotypeQuality
all individuals: 393
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GenotypeQuality
all individuals: 7071
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.065416577881952e-4
allele num: 9386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.941244985117122e-4
allele num: 15454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.179346962133978e-5
allele num: 62906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.42e-1

FS
type: SiteQuality
SIO_000300: 6.53e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.47993e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

GenotypeQuality
all individuals: 505
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2755
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
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GenotypeQuality
all individuals: 27926
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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: 765
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variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.609165808444902e-5
allele num: 62144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11054
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.0827197921178e-4
allele num: 9236
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.54e-1

DP
type: SiteQuality
SIO_000300: 1.378538e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.762e0

FS
type: SiteQuality
SIO_000300: 1.3531e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.011e0

QD
type: SiteQuality
SIO_000300: 1.389e1

GenotypeQuality
all individuals: 577
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5337
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1011
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9030
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 8.252338162479369e-4
allele num: 10906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

QD
type: SiteQuality
SIO_000300: 1.27e1

DP
type: SiteQuality
SIO_000300: 1.251466e6

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

GenotypeQuality
all individuals: 471
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6968
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4176
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3260
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 345
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5351
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.652073352056831e-5
allele num: 60530
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8938
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5914
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

DP
type: SiteQuality
SIO_000300: 1.183789e6

VQSLOD
type: SiteQuality
SIO_000300: -5.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

QD
type: SiteQuality
SIO_000300: 6.84e0

GenotypeQuality
all individuals: 98
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4488
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18452
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 269
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2648
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8153
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546359868868683e-5
allele num: 64668
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.634e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

DP
type: SiteQuality
SIO_000300: 1.979749e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
all individuals: 241
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2673
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9106
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2917
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3448
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5427
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4574
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545069682642687e-5
allele num: 64722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13982
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

QD
type: SiteQuality
SIO_000300: 9.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

FS
type: SiteQuality
SIO_000300: 2.974e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.498e0

DP
type: SiteQuality
SIO_000300: 1.995329e6

VQSLOD
type: SiteQuality
SIO_000300: 5.93e-1

GenotypeQuality
all individuals: 597
bin: 1.25e1
variant carriers: 20

GenotypeQuality
all individuals: 1027
bin: 5.25e1
variant carriers: 15

GenotypeQuality
all individuals: 1773
bin: 3.25e1
variant carriers: 13

GenotypeQuality
all individuals: 17518
bin: 9.75e1
variant carriers: 57

GenotypeQuality
all individuals: 3096
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4557
bin: 6.75e1
variant carriers: 10

GenotypeQuality
all individuals: 3714
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 2410
bin: 8.75e1
variant carriers: 2

Latino
type: Population
allele count: 4
allele frequency: 3.572066440435792e-4
allele num: 11198
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 2.156943303204601e-3
allele num: 9736
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 6.385696040868455e-4
allele num: 12528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.626692456479691e-4
allele num: 8272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 155
allele frequency: 2.487881608937113e-3
allele num: 62302
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

FS
type: SiteQuality
SIO_000300: 1.764e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

QD
type: SiteQuality
SIO_000300: 2.12e0

DP
type: SiteQuality
SIO_000300: 2.043853e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.23e-1

GenotypeQuality
all individuals: 1619
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 666
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 1479
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4557
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7298
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 615
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1773
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 984
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.789272030651341e-4
allele num: 12528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.46508305054474e-4
allele num: 11198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.12355943629418e-4
allele num: 62302
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.027115858668858e-4
allele num: 9736
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.088007736943907e-3
allele num: 8272
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 1.764e0

VQSLOD
type: SiteQuality
SIO_000300: 2.33e-1

DP
type: SiteQuality
SIO_000300: 2.043853e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

QD
type: SiteQuality
SIO_000300: 2.12e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.210169817983371e-5
allele num: 62302
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.23e-1

DP
type: SiteQuality
SIO_000300: 2.043853e6

FS
type: SiteQuality
SIO_000300: 1.764e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 2.12e0

GenotypeQuality
all individuals: 924
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3145
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3218
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 901
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2744
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.402458544080927e-5
allele num: 62476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.502e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 2.051729e6

QD
type: SiteQuality
SIO_000300: 1.26e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

GenotypeQuality
all individuals: 1401
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7840
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2546
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3218
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3145
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4819
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 2.051729e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 1.502e0

QD
type: SiteQuality
SIO_000300: 1.26e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

GenotypeQuality
all individuals: 958
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3630
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3589
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.292900799247767e-3
allele num: 8508
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.149116064565719e-5
allele num: 65050
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

DP
type: SiteQuality
SIO_000300: 2.064277e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

FS
type: SiteQuality
SIO_000300: 3.215e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.236e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19148
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 958
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9357
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3630
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.740644038294169e-4
allele num: 11490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53727901614143e-5
allele num: 65050
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 8.166598611678236e-4
allele num: 14694
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.236e0

FS
type: SiteQuality
SIO_000300: 3.215e0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

DP
type: SiteQuality
SIO_000300: 2.064277e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
all individuals: 4733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9357
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19148
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2380
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 5.25e1
variant carriers: 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: 65050
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.35072872590503e-4
allele num: 8508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

DP
type: SiteQuality
SIO_000300: 2.064277e6

FS
type: SiteQuality
SIO_000300: 3.215e0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.236e0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 82
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3587
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5601
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2851
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19215
bin: 9.75e1
variant carriers: 24

South Asian
type: Population
allele count: 7
allele frequency: 4.748338081671415e-4
allele num: 14742
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.878203620973431e-4
allele num: 8506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.092254134029591e-4
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.609711124769515e-5
allele num: 65080
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.141552511415525e-3
allele num: 876
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.19e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 4.13e0

DP
type: SiteQuality
SIO_000300: 2.067638e6

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

GenotypeQuality
all individuals: 306
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 149
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3635
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9489
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3587
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4429
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19215
bin: 9.75e1
variant carriers: 79

African
type: Population
allele count: 1
allele frequency: 9.881422924901186e-5
allele num: 10120
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.78334011667345e-5
allele num: 14742
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.218450826805918e-3
allele num: 11490
num of homozygotes: 0

East Asian
type: Population
allele count: 54
allele frequency: 6.348459910651305e-3
allele num: 8506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.536570374923171e-4
allele num: 65080
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.141552511415525e-3
allele num: 876
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

DP
type: SiteQuality
SIO_000300: 2.067638e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.95e0

QD
type: SiteQuality
SIO_000300: 1.19e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

FS
type: SiteQuality
SIO_000300: 4.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

GenotypeQuality
all individuals: 306
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4429
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9489
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3587
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2851
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4716
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.881422924901186e-5
allele num: 10120
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 7
allele frequency: 4.748338081671415e-4
allele num: 14742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.609711124769515e-5
allele num: 65080
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740644038294169e-4
allele num: 11490
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.95e0

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

QD
type: SiteQuality
SIO_000300: 1.19e1

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

FS
type: SiteQuality
SIO_000300: 4.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.067638e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

GenotypeQuality
all individuals: 4430
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9603
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3640
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
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: 7
allele frequency: 6.089074460681977e-4
allele num: 11496
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.841898205065159e-4
allele num: 65072
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.1441647597254e-3
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.06981e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.499e0

FS
type: SiteQuality
SIO_000300: 6.7e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.69e-2

QD
type: SiteQuality
SIO_000300: 1.173e1

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5604
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4731
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3598
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.350176263219741e-4
allele num: 8510
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.1441647597254e-3
allele num: 874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

African
type: Population
allele count: 6
allele frequency: 5.926511260371395e-4
allele num: 10124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.147037128104254e-5
allele num: 65072
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.173e1

FS
type: SiteQuality
SIO_000300: 6.7e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

DP
type: SiteQuality
SIO_000300: 2.06981e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.499e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.69e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

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

GenotypeQuality
all individuals: 1186
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5604
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19204
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9603
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3598
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65072
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: 10124
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.69e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.499e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

FS
type: SiteQuality
SIO_000300: 6.7e0

DP
type: SiteQuality
SIO_000300: 2.06981e6

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 1.173e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3647
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2227
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19209
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 141
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9786
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5614
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 1.01419878296146e-3
allele num: 14790
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.395e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 2.072358e6

VQSLOD
type: SiteQuality
SIO_000300: 3.62e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 6.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

GenotypeQuality
all individuals: 9786
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19209
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 3601
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175088131609871e-4
allele num: 8510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536145503702111e-5
allele num: 65098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14790
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.395e0

QD
type: SiteQuality
SIO_000300: 1.173e1

DP
type: SiteQuality
SIO_000300: 2.072358e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 6.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: 3.62e0