2-131890466-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890466
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890466
    reference: chr 2
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.334-9C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.334-9C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6107C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.334-9C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.334-9C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.334-9C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.334-9C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.190-9C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.334-9C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.334-9C>T
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5382
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

2-131890471-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890471
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890471
    reference: chr 2
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.334-4G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.334-4G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.334-4G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6112G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.334-4G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.190-4G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.334-4G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.334-4G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.334-4G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.334-4G>T
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
hgvs: c.334-4G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-131890477-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890477
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890477
    reference: chr 2
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.336G>A
  hgvsp: ENST00000303908.3:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.336G>A
  hgvsp: ENST00000234115.6:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.336G>A
  hgvsp: ENST00000438882.2:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.336G>A
  hgvsp: ENST00000403716.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.336G>A
  hgvsp: ENST00000409158.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.336G>A
  hgvsp: ENST00000409279.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.192G>A
  hgvsp: ENST00000538982.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.336G>A
  hgvsp: ENST00000404460.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.336G>A
  hgvsp: ENST00000409612.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6118G>A
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19206
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.336G>A
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-131890491-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890491
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890491
    reference: chr 2
allele count: 23
allele frequency: 1.895312809018393e-4
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.350C>T
  hgvsp: ENSP00000385892.1:p.Ala117Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.350C>T
  hgvsp: ENSP00000386666.1:p.Ala117Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6132C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.350C>T
  hgvsp: ENSP00000401193.2:p.Ala117Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.350C>T
  hgvsp: ENSP00000385609.1:p.Ala117Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.206C>T
  hgvsp: ENSP00000444389.1:p.Ala69Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.350C>T
  hgvsp: ENSP00000234115.6:p.Ala117Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.350C>T
  hgvsp: ENSP00000386410.1:p.Ala117Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.350C>T
  hgvsp: ENSP00000306852.3:p.Ala117Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.350C>T
  hgvsp: ENSP00000386662.1:p.Ala117Val
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala117Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/2-131890492-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890492
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890492
    reference: chr 2
allele count: 2
allele frequency: 1.648098094798602e-5
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.351A>C
  hgvsp: ENST00000409279.1:c.351A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.351A>C
  hgvsp: ENST00000409612.1:c.351A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.351A>C
  hgvsp: ENST00000403716.1:c.351A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.207A>C
  hgvsp: ENST00000538982.1:c.207A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.351A>C
  hgvsp: ENST00000303908.3:c.351A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.351A>C
  hgvsp: ENST00000234115.6:c.351A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6133A>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.351A>C
  hgvsp: ENST00000409158.1:c.351A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.351A>C
  hgvsp: ENST00000404460.1:c.351A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.351A>C
  hgvsp: ENST00000438882.2:c.351A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala117Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

2-131890493-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890493
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890493
    reference: chr 2
allele count: 23
allele frequency: 1.895219103808566e-4
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.352G>T
  hgvsp: ENSP00000386410.1:p.Val118Phe
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.352G>T
  hgvsp: ENSP00000385609.1:p.Val118Phe
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.352G>T
  hgvsp: ENSP00000386666.1:p.Val118Phe
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.352G>T
  hgvsp: ENSP00000401193.2:p.Val118Phe
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.352G>T
  hgvsp: ENSP00000385892.1:p.Val118Phe
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.208G>T
  hgvsp: ENSP00000444389.1:p.Val70Phe
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.352G>T
  hgvsp: ENSP00000386662.1:p.Val118Phe
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.352G>T
  hgvsp: ENSP00000306852.3:p.Val118Phe
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6134G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.352G>T
  hgvsp: ENSP00000234115.6:p.Val118Phe
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val118Phe
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-131890496-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890496
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890496
    reference: chr 2
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.355A>G
  hgvsp: ENSP00000401193.2:p.Met119Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.355A>G
  hgvsp: ENSP00000386410.1:p.Met119Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.211A>G
  hgvsp: ENSP00000444389.1:p.Met71Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.355A>G
  hgvsp: ENSP00000385609.1:p.Met119Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.355A>G
  hgvsp: ENSP00000306852.3:p.Met119Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.355A>G
  hgvsp: ENSP00000386662.1:p.Met119Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.355A>G
  hgvsp: ENSP00000386666.1:p.Met119Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.355A>G
  hgvsp: ENSP00000385892.1:p.Met119Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6137A>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.355A>G
  hgvsp: ENSP00000234115.6:p.Met119Val
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met119Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-131890497-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890497
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890497
    reference: chr 2
allele count: 5
allele frequency: 4.119905736556747e-5
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.356T>C
  hgvsp: ENSP00000386666.1:p.Met119Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.356T>C
  hgvsp: ENSP00000234115.6:p.Met119Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.356T>C
  hgvsp: ENSP00000386410.1:p.Met119Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6138T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.356T>C
  hgvsp: ENSP00000385892.1:p.Met119Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.356T>C
  hgvsp: ENSP00000306852.3:p.Met119Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.356T>C
  hgvsp: ENSP00000401193.2:p.Met119Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.212T>C
  hgvsp: ENSP00000444389.1:p.Met71Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.356T>C
  hgvsp: ENSP00000386662.1:p.Met119Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.356T>C
  hgvsp: ENSP00000385609.1:p.Met119Thr
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met119Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ

2-131890501-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890501
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890501
    reference: chr 2
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.360C>T
  hgvsp: ENST00000403716.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.360C>T
  hgvsp: ENST00000234115.6:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.360C>T
  hgvsp: ENST00000438882.2:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.360C>T
  hgvsp: ENST00000409279.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.216C>T
  hgvsp: ENST00000538982.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.360C>T
  hgvsp: ENST00000303908.3:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.360C>T
  hgvsp: ENST00000409158.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.360C>T
  hgvsp: ENST00000404460.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6142C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.360C>T
  hgvsp: ENST00000409612.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr120Thr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

2-131890502-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890502
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890502
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.361G>A
  hgvsp: ENSP00000386410.1:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.361G>A
  hgvsp: ENSP00000386662.1:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.361G>A
  hgvsp: ENSP00000234115.6:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6143G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.361G>A
  hgvsp: ENSP00000386666.1:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.217G>A
  hgvsp: ENSP00000444389.1:p.Asp73Asn
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.361G>A
  hgvsp: ENSP00000306852.3:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.361G>A
  hgvsp: ENSP00000385609.1:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.361G>A
  hgvsp: ENSP00000385892.1:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.361G>A
  hgvsp: ENSP00000401193.2:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp121Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

2-131890513-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890513
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890513
    reference: chr 2
allele count: 3
allele frequency: 2.471495419495156e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.228C>T
  hgvsp: ENST00000538982.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.372C>T
  hgvsp: ENST00000404460.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.372C>T
  hgvsp: ENST00000303908.3:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.372C>T
  hgvsp: ENST00000403716.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.372C>T
  hgvsp: ENST00000409612.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.372C>T
  hgvsp: ENST00000409158.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.372C>T
  hgvsp: ENST00000438882.2:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.372C>T
  hgvsp: ENST00000234115.6:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.372C>T
  hgvsp: ENST00000409279.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6154C>T
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser124Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

2-131890514-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890514
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890514
    reference: chr 2
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6155G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.373G>A
  hgvsp: ENSP00000401193.2:p.Val125Met
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.373G>A
  hgvsp: ENSP00000386666.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.373G>A
  hgvsp: ENSP00000386662.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.229G>A
  hgvsp: ENSP00000444389.1:p.Val77Met
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.373G>A
  hgvsp: ENSP00000385609.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.373G>A
  hgvsp: ENSP00000234115.6:p.Val125Met
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.373G>A
  hgvsp: ENSP00000385892.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.373G>A
  hgvsp: ENSP00000306852.3:p.Val125Met
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.373G>A
  hgvsp: ENSP00000386410.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val125Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

2-131890520-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890520
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890520
    reference: chr 2
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.379T>A
  hgvsp: ENSP00000386662.1:p.Ser127Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.379T>A
  hgvsp: ENSP00000306852.3:p.Ser127Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6161T>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.379T>A
  hgvsp: ENSP00000385609.1:p.Ser127Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.379T>A
  hgvsp: ENSP00000386666.1:p.Ser127Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.379T>A
  hgvsp: ENSP00000234115.6:p.Ser127Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.379T>A
  hgvsp: ENSP00000401193.2:p.Ser127Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.379T>A
  hgvsp: ENSP00000386410.1:p.Ser127Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.235T>A
  hgvsp: ENSP00000444389.1:p.Ser79Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.379T>A
  hgvsp: ENSP00000385892.1:p.Ser127Thr
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser127Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

2-131890525-ACCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890525
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890522
    reference: chr 2
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.387_389delTCC
  hgvsp: ENSP00000306852.3:p.Pro131del
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.387_389delTCC
  hgvsp: ENSP00000385892.1:p.Pro131del
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.387_389delTCC
  hgvsp: ENSP00000401193.2:p.Pro131del
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6169_293+6171delTCC
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.243_245delTCC
  hgvsp: ENSP00000444389.1:p.Pro83del
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.387_389delTCC
  hgvsp: ENSP00000234115.6:p.Pro131del
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.387_389delTCC
  hgvsp: ENSP00000386662.1:p.Pro131del
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.387_389delTCC
  hgvsp: ENSP00000385609.1:p.Pro131del
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.387_389delTCC
  hgvsp: ENSP00000386410.1:p.Pro131del
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.387_389delTCC
  hgvsp: ENSP00000386666.1:p.Pro131del
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro131del
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: ACCT
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-131890529-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890529
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890529
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.244C>A
  hgvsp: ENSP00000444389.1:p.Pro82Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.388C>A
  hgvsp: ENSP00000386666.1:p.Pro130Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.388C>A
  hgvsp: ENSP00000386410.1:p.Pro130Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.388C>A
  hgvsp: ENSP00000385609.1:p.Pro130Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6170C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.388C>A
  hgvsp: ENSP00000234115.6:p.Pro130Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.388C>A
  hgvsp: ENSP00000385892.1:p.Pro130Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.388C>A
  hgvsp: ENSP00000401193.2:p.Pro130Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.388C>A
  hgvsp: ENSP00000306852.3:p.Pro130Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.388C>A
  hgvsp: ENSP00000386662.1:p.Pro130Thr
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19238
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro130Thr
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

2-131890534-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890534
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890534
    reference: chr 2
allele count: 12
allele frequency: 9.886144568387404e-5
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.249A>G
  hgvsp: ENST00000538982.1:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.393A>G
  hgvsp: ENST00000409612.1:c.393A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.393A>G
  hgvsp: ENST00000303908.3:c.393A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6175A>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.393A>G
  hgvsp: ENST00000438882.2:c.393A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.393A>G
  hgvsp: ENST00000403716.1:c.393A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.393A>G
  hgvsp: ENST00000409279.1:c.393A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.393A>G
  hgvsp: ENST00000409158.1:c.393A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.393A>G
  hgvsp: ENST00000404460.1:c.393A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.393A>G
  hgvsp: ENST00000234115.6:c.393A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro131Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

2-131890537-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890537
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890537
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6178C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.396C>T
  hgvsp: ENST00000404460.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.396C>T
  hgvsp: ENST00000303908.3:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.396C>T
  hgvsp: ENST00000409158.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.396C>T
  hgvsp: ENST00000409279.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.252C>T
  hgvsp: ENST00000538982.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.396C>T
  hgvsp: ENST00000234115.6:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.396C>T
  hgvsp: ENST00000438882.2:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.396C>T
  hgvsp: ENST00000409612.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.396C>T
  hgvsp: ENST00000403716.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38597
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr132Tyr
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

2-131890539-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890539
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890539
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6180C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.398C>T
  hgvsp: ENSP00000385609.1:p.Thr133Met
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.398C>T
  hgvsp: ENSP00000386410.1:p.Thr133Met
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.254C>T
  hgvsp: ENSP00000444389.1:p.Thr85Met
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.398C>T
  hgvsp: ENSP00000386662.1:p.Thr133Met
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.398C>T
  hgvsp: ENSP00000386666.1:p.Thr133Met
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.398C>T
  hgvsp: ENSP00000385892.1:p.Thr133Met
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.398C>T
  hgvsp: ENSP00000234115.6:p.Thr133Met
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.398C>T
  hgvsp: ENSP00000306852.3:p.Thr133Met
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.398C>T
  hgvsp: ENSP00000401193.2:p.Thr133Met
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr133Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-131890540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890540
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890540
    reference: chr 2
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.399G>A
  hgvsp: ENST00000404460.1:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.399G>A
  hgvsp: ENST00000409279.1:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.255G>A
  hgvsp: ENST00000538982.1:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.399G>A
  hgvsp: ENST00000234115.6:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.399G>A
  hgvsp: ENST00000303908.3:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.399G>A
  hgvsp: ENST00000438882.2:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.399G>A
  hgvsp: ENST00000403716.1:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6181G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.399G>A
  hgvsp: ENST00000409612.1:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.399G>A
  hgvsp: ENST00000409158.1:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr133Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-131890543-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890543
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890543
    reference: chr 2
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.402C>T
  hgvsp: ENST00000438882.2:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.402C>T
  hgvsp: ENST00000409279.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.402C>T
  hgvsp: ENST00000234115.6:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6184C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.402C>T
  hgvsp: ENST00000409158.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.402C>T
  hgvsp: ENST00000403716.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.402C>T
  hgvsp: ENST00000409612.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.258C>T
  hgvsp: ENST00000538982.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.402C>T
  hgvsp: ENST00000303908.3:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.402C>T
  hgvsp: ENST00000404460.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala134Ala
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-131890545-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890545
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890545
    reference: chr 2
allele count: 60
allele frequency: 4.943561011782154e-4
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.404A>G
  hgvsp: ENSP00000385892.1:p.Tyr135Cys
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.404A>G
  hgvsp: ENSP00000401193.2:p.Tyr135Cys
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.260A>G
  hgvsp: ENSP00000444389.1:p.Tyr87Cys
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.404A>G
  hgvsp: ENSP00000386666.1:p.Tyr135Cys
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.404A>G
  hgvsp: ENSP00000385609.1:p.Tyr135Cys
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.404A>G
  hgvsp: ENSP00000234115.6:p.Tyr135Cys
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6186A>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.404A>G
  hgvsp: ENSP00000306852.3:p.Tyr135Cys
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.404A>G
  hgvsp: ENSP00000386410.1:p.Tyr135Cys
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.404A>G
  hgvsp: ENSP00000386662.1:p.Tyr135Cys
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19231
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 25511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr135Cys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

2-131890552-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890552
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890552
    reference: chr 2
allele count: 3
allele frequency: 2.472187886279357e-5
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.411A>G
  hgvsp: ENST00000438882.2:c.411A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.411A>G
  hgvsp: ENST00000234115.6:c.411A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.267A>G
  hgvsp: ENST00000538982.1:c.267A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.411A>G
  hgvsp: ENST00000409279.1:c.411A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.411A>G
  hgvsp: ENST00000403716.1:c.411A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.411A>G
  hgvsp: ENST00000303908.3:c.411A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.411A>G
  hgvsp: ENST00000409612.1:c.411A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.411A>G
  hgvsp: ENST00000409158.1:c.411A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6193A>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.411A>G
  hgvsp: ENST00000404460.1:c.411A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala137Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

2-131890554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890554
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890554
    reference: chr 2
allele count: 3
allele frequency: 2.47222863170386e-5
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.413C>T
  hgvsp: ENSP00000386410.1:p.Pro138Leu
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6195C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.269C>T
  hgvsp: ENSP00000444389.1:p.Pro90Leu
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.413C>T
  hgvsp: ENSP00000234115.6:p.Pro138Leu
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.413C>T
  hgvsp: ENSP00000401193.2:p.Pro138Leu
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.413C>T
  hgvsp: ENSP00000386666.1:p.Pro138Leu
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.413C>T
  hgvsp: ENSP00000385609.1:p.Pro138Leu
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.413C>T
  hgvsp: ENSP00000386662.1:p.Pro138Leu
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.413C>T
  hgvsp: ENSP00000385892.1:p.Pro138Leu
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.413C>T
  hgvsp: ENSP00000306852.3:p.Pro138Leu
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro138Leu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

2-131890555-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890555
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890555
    reference: chr 2
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.414G>T
  hgvsp: ENST00000409612.1:c.414G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.414G>T
  hgvsp: ENST00000234115.6:c.414G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.270G>T
  hgvsp: ENST00000538982.1:c.270G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.414G>T
  hgvsp: ENST00000404460.1:c.414G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.414G>T
  hgvsp: ENST00000438882.2:c.414G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.414G>T
  hgvsp: ENST00000403716.1:c.414G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6196G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.414G>T
  hgvsp: ENST00000409279.1:c.414G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.414G>T
  hgvsp: ENST00000409158.1:c.414G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.414G>T
  hgvsp: ENST00000303908.3:c.414G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12512
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro138Pro
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/2-131890580-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890580
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890580
    reference: chr 2
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+16A>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.439A>C
  hgvsp: ENSP00000386410.1:p.Ser147Arg
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.423+16A>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.423+16A>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.279+16A>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.423+16A>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.423+16A>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+16A>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.423+16A>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6221A>C
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser147Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

2-131890581-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890581
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890581
    reference: chr 2
allele count: 11
allele frequency: 9.085352759469415e-5
allele num: 121074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.423+17G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6222G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.423+17G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+17G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.423+17G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.440G>C
  hgvsp: ENSP00000386410.1:p.Ser147Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.279+17G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.423+17G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+17G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.423+17G>C
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser147Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-131890586-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890586
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890586
    reference: chr 2
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.445C>T
  hgvsp: ENSP00000386410.1:p.Gln149Ter
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.423+22C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6227C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.423+22C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.279+22C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.423+22C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+22C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.423+22C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.423+22C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+22C>T
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln149Ter
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

2-131890589-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890589
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890589
    reference: chr 2
allele count: 10
allele frequency: 8.280887711162637e-5
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+25G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6230G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.423+25G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.423+25G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.423+25G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.423+25G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.423+25G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+25G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.447+1G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.279+25G>C
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18615
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
hgvs: c.447+1G>C
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

2-131890591-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890591
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890591
    reference: chr 2
allele count: 33
allele frequency: 2.734006064522543e-4
allele num: 120702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.279+27G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+27G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.423+27G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6232G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.423+27G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.423+27G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+27G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.447+3G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.423+27G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.423+27G>T
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 18547
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
hgvs: c.447+3G>T
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-131890593-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890593
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890593
    reference: chr 2
allele count: 1
allele frequency: 8.302337938363443e-6
allele num: 120448
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.447+5G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.279+29G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+29G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.423+29G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.423+29G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+29G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6234G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.423+29G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.423+29G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.423+29G>A
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18331
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
hgvs: c.447+5G>A
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-131890608-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890608
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890608
    reference: chr 2
allele count: 1
allele frequency: 8.423322495325057e-6
allele num: 118718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.279+44T>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.423+44T>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+44T>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.423+44T>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.423+44T>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.423+44T>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.423+44T>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6249T>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+44T>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.447+20T>A
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-131890609-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890609
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890609
    reference: chr 2
allele count: 4
allele frequency: 3.370691834499031e-5
allele num: 118670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.423+45C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+45C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.423+45C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.423+45C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6250C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.279+45C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.423+45C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.423+45C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.447+21C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+45C>T
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16689
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-131890612-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890612
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890612
    reference: chr 2
allele count: 2
allele frequency: 1.702214581170102e-5
allele num: 117494
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.279+48C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.423+48C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.447+24C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+48C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+48C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.423+48C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6253C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.423+48C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.423+48C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.423+48C>G
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19032
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

2-131890613-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890613
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890613
    reference: chr 2
allele count: 2
allele frequency: 1.701664227614607e-5
allele num: 117532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6254T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.423+49T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+49T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.423+49T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.423+49T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+49T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.423+49T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.279+49T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.447+25T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.423+49T>C
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-131890613-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890613
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890613
    reference: chr 2
allele count: 2
allele frequency: 1.701664227614607e-5
allele num: 117532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.423+49T>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.423+49T>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+49T>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.423+49T>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6254T>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.279+49T>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.423+49T>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+49T>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.423+49T>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.447+25T>G
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19112
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

2-131890617-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890617
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890617
    reference: chr 2
allele count: 1
allele frequency: 8.60229853416833e-6
allele num: 116248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.423+53G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6258G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.423+53G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.423+53G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+53G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.279+53G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.423+53G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.447+29G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.423+53G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+53G>A
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4394
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-131890632-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890632
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890632
    reference: chr 2
allele count: 2
allele frequency: 1.816629425763438e-5
allele num: 110094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.423+68G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+68G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.423+68G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.279+68G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.423+68G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6273G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.423+68G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.447+44G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+68G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.423+68G>A
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12520
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17061
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7479
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

2-131890632-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890632
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890633
    reference: chr 2
allele count: 3
allele frequency: 2.724944138645158e-5
allele num: 110094
alternate allele: GT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.447+51dupT
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.423+75dupT
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.423+75dupT
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+75dupT
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+75dupT
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6280dupT
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.279+75dupT
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.423+75dupT
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.423+75dupT
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.423+75dupT
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12520
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10847
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-131890632-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890632
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890632
    reference: chr 2
allele count: 1
allele frequency: 9.083147128817192e-6
allele num: 110094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.423+68G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.423+68G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.423+68G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.279+68G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.423+68G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6273G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+68G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.447+44G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+68G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.423+68G>T
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7479
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5004
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-131890632-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131890632
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131890631
    reference: chr 2
allele count: 1
allele frequency: 9.083147128817192e-6
allele num: 110094
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.447+51delT
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.423+75delT
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.423+75delT
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.423+75delT
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.293+6280delT
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+75delT
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.423+75delT
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.279+75delT
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.423+75delT
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+75delT
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17061
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10305
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: GT
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

2-131897693-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897693
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897693
    reference: chr 2
allele count: 1
allele frequency: 1.280475312435976e-5
allele num: 78096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.280-47A>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.424-47A>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.424-47A>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.294-50A>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.448-47A>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6517A>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.424-47A>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7129A>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.424-50A>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7129A>T
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20418
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3851
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-131897694-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897694
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897694
    reference: chr 2
allele count: 2
allele frequency: 2.564891761567662e-5
allele num: 77976
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.448-46C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.424-46C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7130C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6516C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.280-46C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.424-49C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7130C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.294-49C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.424-46C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.424-46C>A
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18287
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-131897696-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897696
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897696
    reference: chr 2
allele count: 1
allele frequency: 1.272556056094271e-5
allele num: 78582
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7132A>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.424-44A>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.448-44A>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.424-47A>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.424-44A>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.294-47A>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6514A>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.280-44A>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7132A>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.424-44A>G
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ

2-131897706-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897706
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897706
    reference: chr 2
allele count: 1
allele frequency: 1.242668257282036e-5
allele num: 80472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.424-34C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7142C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.424-34C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6504C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.280-34C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.448-34C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.424-34C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.424-37C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7142C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.294-37C>T
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18444
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12461
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

2-131897711-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897711
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897711
    reference: chr 2
allele count: 1
allele frequency: 1.219125643088777e-5
allele num: 82026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7147G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.424-29G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.424-29G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6499G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.424-32G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.424-29G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.294-32G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.448-29G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.280-29G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7147G>A
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

2-131897721-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897721
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897721
    reference: chr 2
allele count: 1
allele frequency: 1.110346205947014e-5
allele num: 90062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7157T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.280-19T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.424-19T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.294-22T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7157T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6489T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.424-22T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.448-19T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.424-19T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.424-19T>C
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15211
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26443
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-131897724-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897724
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897724
    reference: chr 2
allele count: 234
allele frequency: 2.487509301583927e-3
allele num: 94070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.424-19G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.280-16G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.424-16G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.424-16G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7160G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6486G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7160G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.294-19G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.424-16G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.448-16G>T
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 29930
  bin: 2.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 2.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13229
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31326
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-131897725-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897725
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897725
    reference: chr 2
allele count: 25
allele frequency: 2.620819792431072e-4
allele num: 95390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7161C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.424-18C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7161C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.448-15C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.294-18C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.424-15C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6485C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.280-15C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.424-15C>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.424-15C>A
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12640
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30948
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-131897728-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897728
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897728
    reference: chr 2
allele count: 80
allele frequency: 7.996481548118827e-4
allele num: 100044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.424-15G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.424-12G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6482G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.424-12G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.280-12G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7164G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.448-12G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7164G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.294-15G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.424-12G>A
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10417
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34636
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36723
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

2-131897732-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897732
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897732
    reference: chr 2
allele count: 1
allele frequency: 9.559498317528296e-6
allele num: 104608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6478C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.448-8C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.294-11C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.424-8C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.280-8C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.424-8C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7168C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.424-11C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.424-8C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7168C>G
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
hgvs: c.448-8C>G
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-131897736-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897736
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897736
    reference: chr 2
allele count: 1
allele frequency: 9.230030828302967e-6
allele num: 108342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.280-4T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.448-4T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.424-7T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.424-4T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6474T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.294-7T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7172T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7172T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.424-4T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.424-4T>C
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
hgvs: c.448-4T>C
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/2-131897738-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897738
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897738
    reference: chr 2
allele count: 1
allele frequency: 9.06322505800464e-6
allele num: 110336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7174A>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.424-2A>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.424-2A>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.294-5A>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.424-2A>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.280-2A>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.424-5A>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.448-2A>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6472A>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7174A>C
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 3.25e1
  variant carriers: 0
hgvs: c.448-2A>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

2-131897739-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897739
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897739
    reference: chr 2
allele count: 2
allele frequency: 1.802516312772631e-5
allele num: 110956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.424-1G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7175G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.424-1G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7175G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.424-1G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.280-1G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.448-1G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.294-4G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6471G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.424-4G>T
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41967
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
hgvs: c.448-1G>T
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-131897743-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897743
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897743
    reference: chr 2
allele count: 1
allele frequency: 8.780710535096499e-6
allele num: 113886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.294G>T
  hgvsp: ENSP00000389629.2:p.Leu98Phe
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7179G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.427G>T
  hgvsp: ENSP00000386666.1:p.Ala143Ser
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6467G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.283G>T
  hgvsp: ENSP00000444389.1:p.Ala95Ser
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7179G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.424G>T
  hgvsp: ENSP00000234115.6:p.Ala142Ser
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.451G>T
  hgvsp: ENSP00000386410.1:p.Ala151Ser
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.427G>T
  hgvsp: ENSP00000385892.1:p.Ala143Ser
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.427G>T
  hgvsp: ENSP00000386662.1:p.Ala143Ser
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala151Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

2-131897750-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897750
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897750
    reference: chr 2
allele count: 1
allele frequency: 8.561350638676758e-6
allele num: 116804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.434G>A
  hgvsp: ENSP00000386666.1:p.Gly145Asp
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.434G>A
  hgvsp: ENSP00000385892.1:p.Gly145Asp
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.458G>A
  hgvsp: ENSP00000386410.1:p.Gly153Asp
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7186G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.290G>A
  hgvsp: ENSP00000444389.1:p.Gly97Asp
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7186G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6460G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.434G>A
  hgvsp: ENSP00000386662.1:p.Gly145Asp
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.431G>A
  hgvsp: ENSP00000234115.6:p.Gly144Asp
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.301G>A
  hgvsp: ENSP00000389629.2:p.Ala101Thr
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly153Asp
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum

2-131897753-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897753
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897753
    reference: chr 2
allele count: 1
allele frequency: 8.509479560230096e-6
allele num: 117516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.304A>G
  hgvsp: ENSP00000389629.2:p.Met102Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.437A>G
  hgvsp: ENSP00000386662.1:p.Tyr146Cys
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.293A>G
  hgvsp: ENSP00000444389.1:p.Tyr98Cys
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7189A>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.437A>G
  hgvsp: ENSP00000386666.1:p.Tyr146Cys
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7189A>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.461A>G
  hgvsp: ENSP00000386410.1:p.Tyr154Cys
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.437A>G
  hgvsp: ENSP00000385892.1:p.Tyr146Cys
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.434A>G
  hgvsp: ENSP00000234115.6:p.Tyr145Cys
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6457A>G
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr154Cys
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-131897763-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897763
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897763
    reference: chr 2
allele count: 86
allele frequency: 7.238326095007239e-4
allele num: 118812
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7199C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.447C>G
  hgvsp: ENSP00000386662.1:p.Tyr149Ter
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7199C>G
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.303C>G
  hgvsp: ENSP00000444389.1:p.Tyr101Ter
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.444C>G
  hgvsp: ENSP00000234115.6:p.Tyr148Ter
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.447C>G
  hgvsp: ENSP00000385892.1:p.Tyr149Ter
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.314C>G
  hgvsp: ENSP00000389629.2:p.Thr105Arg
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.447C>G
  hgvsp: ENSP00000386666.1:p.Tyr149Ter
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.471C>G
  hgvsp: ENSP00000386410.1:p.Tyr157Ter
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6447C>G
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 44683
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9613
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 50000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 9.75e1
  variant carriers: 86
hgvs: p.Tyr157Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-131897763-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897763
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897763
    reference: chr 2
allele count: 21
allele frequency: 1.767498232501767e-4
allele num: 118812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7199C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7199C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.444C>T
  hgvsp: ENST00000234115.6:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.447C>T
  hgvsp: ENST00000403716.1:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.303C>T
  hgvsp: ENST00000538982.1:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.471C>T
  hgvsp: ENST00000409158.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.314C>T
  hgvsp: ENSP00000389629.2:p.Thr105Met
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.447C>T
  hgvsp: ENST00000409279.1:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.447C>T
  hgvsp: ENST00000409612.1:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6447C>T
  variant of: http://identifiers.org/hgnc/19236
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44683
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9613
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr105Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

2-131897764-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897764
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897764
    reference: chr 2
allele count: 4
allele frequency: 3.362248671911775e-5
allele num: 118968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.445G>A
  hgvsp: ENSP00000234115.6:p.Gly149Ser
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7200G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.448G>A
  hgvsp: ENSP00000385892.1:p.Gly150Ser
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.304G>A
  hgvsp: ENSP00000444389.1:p.Gly102Ser
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.472G>A
  hgvsp: ENSP00000386410.1:p.Gly158Ser
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.448G>A
  hgvsp: ENSP00000386662.1:p.Gly150Ser
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.448G>A
  hgvsp: ENSP00000386666.1:p.Gly150Ser
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.315G>A
  hgvsp: ENST00000439822.2:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6446G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7200G>A
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9732
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly158Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-131897767-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897767
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897767
    reference: chr 2
allele count: 1
allele frequency: 8.387010198604401e-6
allele num: 119232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6443G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.448G>A
  hgvsp: ENSP00000234115.6:p.Gly150Ser
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.451G>A
  hgvsp: ENSP00000385892.1:p.Gly151Ser
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.451G>A
  hgvsp: ENSP00000386666.1:p.Gly151Ser
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.451G>A
  hgvsp: ENSP00000386662.1:p.Gly151Ser
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.318G>A
  hgvsp: ENST00000439822.2:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7203G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.475G>A
  hgvsp: ENSP00000386410.1:p.Gly159Ser
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.307G>A
  hgvsp: ENSP00000444389.1:p.Gly103Ser
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7203G>A
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9863
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly159Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

2-131897767-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897767
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897767
    reference: chr 2
allele count: 1
allele frequency: 8.387010198604401e-6
allele num: 119232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.307G>C
  hgvsp: ENSP00000444389.1:p.Gly103Arg
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.451G>C
  hgvsp: ENSP00000386662.1:p.Gly151Arg
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.451G>C
  hgvsp: ENSP00000386666.1:p.Gly151Arg
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.451G>C
  hgvsp: ENSP00000385892.1:p.Gly151Arg
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.475G>C
  hgvsp: ENSP00000386410.1:p.Gly159Arg
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6443G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.448G>C
  hgvsp: ENSP00000234115.6:p.Gly150Arg
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7203G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7203G>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.318G>C
  hgvsp: ENST00000439822.2:c.318G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly159Arg
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

2-131897768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897768
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897768
    reference: chr 2
allele count: 1
allele frequency: 8.383072899201931e-6
allele num: 119288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6442G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.449G>A
  hgvsp: ENSP00000234115.6:p.Gly150Asp
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.476G>A
  hgvsp: ENSP00000386410.1:p.Gly159Asp
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.319G>A
  hgvsp: ENSP00000389629.2:p.Val107Met
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.452G>A
  hgvsp: ENSP00000386666.1:p.Gly151Asp
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7204G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.452G>A
  hgvsp: ENSP00000385892.1:p.Gly151Asp
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7204G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.452G>A
  hgvsp: ENSP00000386662.1:p.Gly151Asp
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.308G>A
  hgvsp: ENSP00000444389.1:p.Gly103Asp
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50463
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly159Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-131897769-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897769
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897769
    reference: chr 2
allele count: 1
allele frequency: 8.379701012267883e-6
allele num: 119336
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.477T>C
  hgvsp: ENST00000409158.1:c.477T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6441T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.309T>C
  hgvsp: ENST00000538982.1:c.309T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.453T>C
  hgvsp: ENST00000409279.1:c.453T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7205T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.320T>C
  hgvsp: ENSP00000389629.2:p.Val107Ala
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7205T>C
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.453T>C
  hgvsp: ENST00000403716.1:c.453T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.453T>C
  hgvsp: ENST00000409612.1:c.453T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.450T>C
  hgvsp: ENST00000234115.6:c.450T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val107Ala
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-131897770-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897770
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897770
    reference: chr 2
allele count: 1
allele frequency: 8.374648264772879e-6
allele num: 119408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.478G>A
  hgvsp: ENSP00000386410.1:p.Ala160Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7206G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7206G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.454G>A
  hgvsp: ENSP00000385892.1:p.Ala152Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6440G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.451G>A
  hgvsp: ENSP00000234115.6:p.Ala151Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.454G>A
  hgvsp: ENSP00000386662.1:p.Ala152Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.454G>A
  hgvsp: ENSP00000386666.1:p.Ala152Thr
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.321G>A
  hgvsp: ENST00000439822.2:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.310G>A
  hgvsp: ENSP00000444389.1:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3878
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala160Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

2-131897771-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897771
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897771
    reference: chr 2
allele count: 1
allele frequency: 8.371703641691085e-6
allele num: 119450
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.311C>T
  hgvsp: ENSP00000444389.1:p.Ala104Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7207C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.479C>T
  hgvsp: ENSP00000386410.1:p.Ala160Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.455C>T
  hgvsp: ENSP00000386662.1:p.Ala152Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7207C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.452C>T
  hgvsp: ENSP00000234115.6:p.Ala151Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6439C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.455C>T
  hgvsp: ENSP00000386666.1:p.Ala152Val
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.322C>T
  hgvsp: ENSP00000389629.2:p.Arg108Cys
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.455C>T
  hgvsp: ENSP00000385892.1:p.Ala152Val
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3879
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala160Val
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-131897772-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897772
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897772
    reference: chr 2
allele count: 5
allele frequency: 4.18270035134683e-5
allele num: 119540
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.480G>A
  hgvsp: ENST00000409158.1:c.480G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.456G>A
  hgvsp: ENST00000409612.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7208G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.456G>A
  hgvsp: ENST00000409279.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.453G>A
  hgvsp: ENST00000234115.6:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.456G>A
  hgvsp: ENST00000403716.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.312G>A
  hgvsp: ENST00000538982.1:c.312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6438G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.323G>A
  hgvsp: ENSP00000389629.2:p.Arg108His
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7208G>A
  variant of: http://identifiers.org/hgnc/19236
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10128
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg108His
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP

2-131897777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897777
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897777
    reference: chr 2
allele count: 2
allele frequency: 1.667278001934042e-5
allele num: 119956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6433C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.461C>T
  hgvsp: ENSP00000385892.1:p.Pro154Leu
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7213C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.317C>T
  hgvsp: ENSP00000444389.1:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.461C>T
  hgvsp: ENSP00000386662.1:p.Pro154Leu
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7213C>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.461C>T
  hgvsp: ENSP00000386666.1:p.Pro154Leu
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.458C>T
  hgvsp: ENSP00000234115.6:p.Pro153Leu
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.328C>T
  hgvsp: ENSP00000389629.2:p.Arg110Cys
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.485C>T
  hgvsp: ENSP00000386410.1:p.Pro162Leu
  variant of: http://identifiers.org/hgnc/19236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro162Leu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-131897778-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897778
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897778
    reference: chr 2
allele count: 1
allele frequency: 8.330834083108401e-6
allele num: 120036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6432G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.462G>A
  hgvsp: ENST00000409612.1:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.462G>A
  hgvsp: ENST00000403716.1:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.459G>A
  hgvsp: ENST00000234115.6:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.462G>A
  hgvsp: ENST00000409279.1:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7214G>A
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.318G>A
  hgvsp: ENST00000538982.1:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.486G>A
  hgvsp: ENST00000409158.1:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.329G>A
  hgvsp: ENSP00000389629.2:p.Arg110His
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7214G>A
  variant of: http://identifiers.org/hgnc/19236
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44684
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg110His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD

2-131897778-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131897778
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 131897778
    reference: chr 2
allele count: 5
allele frequency: 4.165417041554201e-5
allele num: 120036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000234115
  ensembl transcript: ENST00000234115
  gene symbol: PLEKHB2
  hgvsc: ENST00000234115.6:c.459G>T
  hgvsp: ENST00000234115.6:c.459G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385892
  ensembl transcript: ENST00000403716
  gene symbol: PLEKHB2
  hgvsc: ENST00000403716.1:c.462G>T
  hgvsp: ENST00000403716.1:c.462G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000444389
  ensembl transcript: ENST00000538982
  gene symbol: PLEKHB2
  hgvsc: ENST00000538982.1:c.318G>T
  hgvsp: ENST00000538982.1:c.318G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386410
  ensembl transcript: ENST00000409158
  gene symbol: PLEKHB2
  hgvsc: ENST00000409158.1:c.486G>T
  hgvsp: ENST00000409158.1:c.486G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000385609
  ensembl transcript: ENST00000404460
  gene symbol: PLEKHB2
  hgvsc: ENST00000404460.1:c.423+7214G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386666
  ensembl transcript: ENST00000409279
  gene symbol: PLEKHB2
  hgvsc: ENST00000409279.1:c.462G>T
  hgvsp: ENST00000409279.1:c.462G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000401193
  ensembl transcript: ENST00000438882
  gene symbol: PLEKHB2
  hgvsc: ENST00000438882.2:c.424-6432G>T
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000386662
  ensembl transcript: ENST00000409612
  gene symbol: PLEKHB2
  hgvsc: ENST00000409612.1:c.462G>T
  hgvsp: ENST00000409612.1:c.462G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000389629
  ensembl transcript: ENST00000439822
  gene symbol: PLEKHB2
  hgvsc: ENST00000439822.2:c.329G>T
  hgvsp: ENSP00000389629.2:p.Arg110Leu
  variant of: http://identifiers.org/hgnc/19236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115762
  ensembl protein: ENSP00000306852
  ensembl transcript: ENST00000303908
  gene symbol: PLEKHB2
  hgvsc: ENST00000303908.3:c.423+7214G>T
  variant of: http://identifiers.org/hgnc/19236
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10633
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg110Leu
num of homozygotes: 0
reference allele: G

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

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2489
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2831
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37908
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12432
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2489
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.149e0

DP
type: SiteQuality
SIO_000300: 1.889072e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.355e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.288e0

MQ
type: SiteQuality
SIO_000300: 5.908e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.367e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

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

GenotypeQuality
all individuals: 2484
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12459
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 115
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38169
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2829
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2491
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.225e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.89079e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

VQSLOD
type: SiteQuality
SIO_000300: 9.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e-1

GenotypeDepth
all individuals: 57
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2835
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12476
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38363
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1020
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2484
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 7.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.892285e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.41e-1

FS
type: SiteQuality
SIO_000300: 2.847e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.182e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

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

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2483
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 446
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2837
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12494
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38468
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2486
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.298746476338991e-4
allele num: 66692
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.165e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.066e0

DP
type: SiteQuality
SIO_000300: 1.894803e6

VQSLOD
type: SiteQuality
SIO_000300: 5.41e0

GenotypeQuality
all individuals: 2487
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38507
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 12501
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 48
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Latino
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Other
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African
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European (Finnish)
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South Asian
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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Other
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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FS
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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Latino
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InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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FS
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MQ
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QD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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African
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South Asian
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East Asian
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European (Non-Finnish)
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QD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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DP
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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MQ
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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South Asian
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Latino
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European (Finnish)
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Other
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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MQ
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ClippingRankSum
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VQSLOD
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FS
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Finnish)
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South Asian
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Other
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African
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European (Non-Finnish)
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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Latino
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Other
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.876e-1

QD
type: SiteQuality
SIO_000300: 1.067e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-3

DP
type: SiteQuality
SIO_000300: 1.891045e6

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

GenotypeQuality
all individuals: 446
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2489
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.563e0

QD
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MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

ClippingRankSum
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SIO_000300: -7.61e-1

FS
type: SiteQuality
SIO_000300: 2.148e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.49e-1

DP
type: SiteQuality
SIO_000300: 1.89099e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.308e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.651e1

DP
type: SiteQuality
SIO_000300: 1.890888e6

MQRankSum
type: SiteQuality
SIO_000300: -3.305e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 2.971e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.01e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

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
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 2489
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.942e0

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.028e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.324e0

DP
type: SiteQuality
SIO_000300: 1.890946e6

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-2

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 12

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1025
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 12
allele frequency: 1.38728323699422e-3
allele num: 8650
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.891265e6

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

FS
type: SiteQuality
SIO_000300: 5.69e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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QD
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FS
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ClippingRankSum
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VQSLOD
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DP
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SIO_000300: 1.889987e6

BaseQRankSum
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SIO_000300: -1.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 60

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

African
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allele frequency: 1.92270717169775e-4
allele num: 10402
num of homozygotes: 0

Latino
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allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 8.244146655874329e-4
allele num: 66714
num of homozygotes: 0

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

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

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

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

African
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allele frequency: 2.885170225043277e-4
allele num: 10398
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

BaseQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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FS
type: SiteQuality
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DP
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SIO_000300: 1.886125e6

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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DP
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.071e0

MQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10390
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

Other
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BaseQRankSum
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SIO_000300: 1.77e0

VQSLOD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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QD
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FS
type: SiteQuality
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

South Asian
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DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11

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

European (Finnish)
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Other
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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Latino
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African
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allele frequency: 1.061981077428075e-3
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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DP
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MQ
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10348
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Latino
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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Other
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VQSLOD
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QD
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MQ
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ReadPosRankSum
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BaseQRankSum
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DP
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 2730
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.738223535546671e-4
allele num: 11506
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
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: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.054725168756027e-4
allele num: 66368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.66e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 5.725e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

DP
type: SiteQuality
SIO_000300: 1.855177e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
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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variant carriers: 33

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.0790273556231e-5
allele num: 16450
num of homozygotes: 0

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

African
type: Population
allele count: 13
allele frequency: 1.25968992248062e-3
allele num: 10320
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.864551923772766e-4
allele num: 66328
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.294e0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

QD
type: SiteQuality
SIO_000300: 1.322e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.852317e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 36812
bin: 6.25e1
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: 1
allele frequency: 1.16795141322121e-4
allele num: 8562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66202
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.277e0

DP
type: SiteQuality
SIO_000300: 1.839191e6

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.34e-1

QD
type: SiteQuality
SIO_000300: 1.227e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2143
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variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65190
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.904719501335708e-5
allele num: 11230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.553e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.166e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.74795e6

QD
type: SiteQuality
SIO_000300: 1.017e1

GenotypeQuality
all individuals: 2129
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 827
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 33
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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: 13
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GenotypeQuality
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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: 148
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GenotypeQuality
all individuals: 1083
bin: 2.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65162
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.55998576005696e-4
allele num: 11236
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.747411e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.901e0

MQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

QD
type: SiteQuality
SIO_000300: 1.325e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

GenotypeQuality
all individuals: 181
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 60
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1919
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GenotypeQuality
all individuals: 17
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64480
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.231982259455464e-4
allele num: 16234
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11084
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.333e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.56e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.650913e6

GenotypeQuality
all individuals: 711
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.100390649221802e-5
allele num: 64508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11086
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.418e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
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DP
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VQSLOD
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SIO_000300: -1.001e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.81e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11086
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64508
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 2
allele frequency: 1.230920728705071e-4
allele num: 16248
num of homozygotes: 0

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

QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 3.0e-3

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.171315724512466e-5
allele num: 16204
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63712
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9876
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.898e0

DP
type: SiteQuality
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QD
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MQRankSum
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SIO_000300: -8.799999999999999e-2

InbreedingCoeff
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SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.025e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.332111559094999e-5
allele num: 60022
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15756
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -8.7e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.269906e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.31e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60022
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.686168151879117e-5
allele num: 10324
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.269357705001269e-4
allele num: 15756
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9222
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

VQSLOD
type: SiteQuality
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FS
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ClippingRankSum
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SIO_000300: -3.95e-1

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.269906e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.31e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.24e-1

QD
type: SiteQuality
SIO_000300: 1.019e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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: 852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.563966218329684e-4
allele num: 6394
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.019e1

DP
type: SiteQuality
SIO_000300: 1.269906e6

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.31e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.24e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.666055779547499e-5
allele num: 60022
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.019e1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.269906e6

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.31e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.351060328208022e-5
allele num: 42534
num of homozygotes: 0

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

European (Finnish)
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ReadPosRankSum
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 2
allele frequency: 4.657661853749418e-4
allele num: 4294
num of homozygotes: 0

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

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

South Asian
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MQ
type: SiteQuality
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BaseQRankSum
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QD
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DP
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InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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African
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East Asian
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South Asian
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Other
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European (Finnish)
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ReadPosRankSum
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DP
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
type: Population
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allele frequency: 0.0e0
allele num: 5640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.276970718156564e-5
allele num: 43918
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

FS
type: SiteQuality
SIO_000300: 2.236e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

DP
type: SiteQuality
SIO_000300: 8.9575e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

GenotypeQuality
all individuals: 509
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.332622601279318e-4
allele num: 7504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5736
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.208e0

DP
type: SiteQuality
SIO_000300: 9.35529e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2244
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 7.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 585
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.556662515566625e-4
allele num: 6424
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

FS
type: SiteQuality
SIO_000300: 8.682e0

QD
type: SiteQuality
SIO_000300: 1.717e1

VQSLOD
type: SiteQuality
SIO_000300: -9.116e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.24e-1

DP
type: SiteQuality
SIO_000300: 1.071745e6

GenotypeQuality
all individuals: 1415
bin: 9.75e1
variant carriers: 230

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3213
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 491
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 116
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 455
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13608
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2411
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 456
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2770
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 8.75e1
variant carriers: 1

Latino
type: Population
allele count: 43
allele frequency: 5.352252925068459e-3
allele num: 8034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 171
allele frequency: 3.299247540034729e-3
allele num: 51830
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.996007984031936e-4
allele num: 5010
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 8.39127307600096e-4
allele num: 8342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6748
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 4.155124653739612e-3
allele num: 722
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 6.724447101016139e-4
allele num: 13384
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

FS
type: SiteQuality
SIO_000300: 8.139999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

DP
type: SiteQuality
SIO_000300: 1.126923e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.04e0

GenotypeQuality
all individuals: 32471
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13025
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2971
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 221
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 510
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GenotypeQuality
all individuals: 189
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
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variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 466
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 611
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2573
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

African
type: Population
allele count: 24
allele frequency: 2.845624851790372e-3
allele num: 8434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.902515124995244e-5
allele num: 52562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13504
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

DP
type: SiteQuality
SIO_000300: 1.142198e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

FS
type: SiteQuality
SIO_000300: 1.504e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

QD
type: SiteQuality
SIO_000300: 1.274e1

GenotypeQuality
all individuals: 676
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
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variant carriers: 0

GenotypeQuality
all individuals: 372
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variant carriers: 1

GenotypeQuality
all individuals: 417
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variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
all individuals: 10826
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variant carriers: 0

GenotypeQuality
all individuals: 350
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GenotypeQuality
all individuals: 213
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variant carriers: 2

GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 1260
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variant carriers: 79

GenotypeQuality
all individuals: 2758
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 635
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GenotypeQuality
all individuals: 427
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7224
num of homozygotes: 0

African
type: Population
allele count: 72
allele frequency: 8.204193254329991e-3
allele num: 8776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 7.856341189674523e-4
allele num: 8910
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.164350193437455e-5
allele num: 13958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55164
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.19706e6

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.898e0

QD
type: SiteQuality
SIO_000300: 1.179e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.282e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

GenotypeQuality
all individuals: 8590
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 527
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variant carriers: 0

GenotypeQuality
all individuals: 653
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variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 8.75e1
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GenotypeQuality
all individuals: 2919
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
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GenotypeQuality
all individuals: 710
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GenotypeQuality
all individuals: 214
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GenotypeQuality
all individuals: 409
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40168
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9058
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.969612489545581e-5
allele num: 14348
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

DP
type: SiteQuality
SIO_000300: 1.247011e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: 7.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.266e0

QD
type: SiteQuality
SIO_000300: 1.133e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 5.75e1
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GenotypeQuality
all individuals: 685
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variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 9.75e1
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GenotypeQuality
all individuals: 757
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variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
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GenotypeQuality
all individuals: 192
bin: 8.75e1
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GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 4.25e1
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GenotypeQuality
all individuals: 43172
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6761
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9334
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.249375312343828e-4
allele num: 8004
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14698
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.284651e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.74e-1

QD
type: SiteQuality
SIO_000300: 2.344e1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e-1

FS
type: SiteQuality
SIO_000300: 1.0389e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 699
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44906
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 386
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3224
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5752
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60934
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14892
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.231527093596059e-3
allele num: 812
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.306952e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.526e-1

FS
type: SiteQuality
SIO_000300: 6.133e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.052e0

QD
type: SiteQuality
SIO_000300: 2.904e1

GenotypeQuality
all individuals: 839
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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: 2

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14944
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.44140625e-4
allele num: 8192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61324
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.016e0

QD
type: SiteQuality
SIO_000300: 7.85e0

FS
type: SiteQuality
SIO_000300: 3.089e0

DP
type: SiteQuality
SIO_000300: 1.314672e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -4.569e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.554e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.587402374753953e-5
allele num: 62996
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.346481e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

FS
type: SiteQuality
SIO_000300: 1.218e0

QD
type: SiteQuality
SIO_000300: 9.33e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 193
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548658861426005e-5
allele num: 64572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15678
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.495e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.37686e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

QD
type: SiteQuality
SIO_000300: 1.46e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 424
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.325910931174089e-5
allele num: 15808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64926
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11124
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.348e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.546e0

DP
type: SiteQuality
SIO_000300: 1.384344e6

FS
type: SiteQuality
SIO_000300: 2.434e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 1.365e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 427
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 82
allele frequency: 1.251373458674154e-3
allele num: 65528
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.871668311944718e-5
allele num: 10130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.734848484848485e-4
allele num: 6336
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

DP
type: SiteQuality
SIO_000300: 1.404493e6

VQSLOD
type: SiteQuality
SIO_000300: 5.09e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

BaseQRankSum
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SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 1.247e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.37345867415456e-4
allele num: 65528
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.974333662388944e-4
allele num: 10130
num of homozygotes: 0

South Asian
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allele num: 16054
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East Asian
type: Population
allele count: 2
allele frequency: 2.327746741154562e-4
allele num: 8592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
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Latino
type: Population
allele count: 7
allele frequency: 6.197981228971136e-4
allele num: 11294
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.138952164009112e-3
allele num: 878
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.404493e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
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African
type: Population
allele count: 2
allele frequency: 1.970831690973591e-4
allele num: 10148
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Latino
type: Population
allele count: 0
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South Asian
type: Population
allele count: 2
allele frequency: 1.243471773190749e-4
allele num: 16084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65598
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
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allele num: 8596
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 4.69e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 2.19e0

DP
type: SiteQuality
SIO_000300: 1.404904e6

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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South Asian
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FS
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MQRankSum
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QD
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MQ
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DP
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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allele num: 65728
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Latino
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Other
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VQSLOD
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BaseQRankSum
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FS
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DP
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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Other
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European (Finnish)
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African
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South Asian
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.520403819254394e-5
allele num: 65772
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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ClippingRankSum
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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European (Finnish)
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FS
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MQ
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DP
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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QD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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MQ
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QD
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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ClippingRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 779
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51306
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512127260630255e-5
allele num: 66132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
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: 8638
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 1.423043e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.08e-1

FS
type: SiteQuality
SIO_000300: 4.197e0

QD
type: SiteQuality
SIO_000300: 1.114e1