8-145001059-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001059
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001059
    reference: chr 8
allele count: 1
allele frequency: 8.353241893178742e-6
allele num: 119714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3958-9A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4357-9A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3946-9A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.36-9A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3880-9A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3850-9A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3904-9A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3946-9A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4015-9A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4027-9A>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10865
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

8-145001062-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001062
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001062
    reference: chr 8
allele count: 1
allele frequency: 8.356871855726965e-6
allele num: 119662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.36-12T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3850-12T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3880-12T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3946-12T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4027-12T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4357-12T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3904-12T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3958-12T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4015-12T>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3946-12T>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21964
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

8-145001069-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001069
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001069
    reference: chr 8
allele count: 4
allele frequency: 3.344649397126947e-5
allele num: 119594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4015-19C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3946-19C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4027-19C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3880-19C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3850-19C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3946-19C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4357-19C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3958-19C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3904-19C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.36-19C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3796
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

8-145001069-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001069
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001069
    reference: chr 8
allele count: 4
allele frequency: 3.344649397126947e-5
allele num: 119594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3958-19C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3946-19C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3946-19C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.36-19C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4027-19C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4015-19C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3904-19C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3880-19C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4357-19C>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3850-19C>G
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24412
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

8-145001075-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001075
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001075
    reference: chr 8
allele count: 8
allele frequency: 6.692208596141941e-5
allele num: 119542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4015-25G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4357-25G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3946-25G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.36-25G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3880-25G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3850-25G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3946-25G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3904-25G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3958-25G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4027-25G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12972
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

8-145001078-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001078
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001078
    reference: chr 8
allele count: 179
allele frequency: 1.498108533360115e-3
allele num: 119484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3880-28C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.36-28C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3904-28C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3946-28C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3958-28C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4027-28C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3850-28C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3946-28C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4015-28C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4357-28C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21340
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6204
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12700
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 9.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

8-145001079-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001079
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001079
    reference: chr 8
allele count: 1
allele frequency: 8.371002846140968e-6
allele num: 119460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3904-29G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3946-29G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3958-29G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3946-29G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4027-29G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.36-29G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4015-29G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3880-29G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4357-29G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3850-29G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

8-145001080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001080
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001080
    reference: chr 8
allele count: 3
allele frequency: 2.511553144464537e-5
allele num: 119448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3958-30C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3904-30C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3880-30C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4015-30C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3946-30C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3850-30C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3946-30C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4027-30C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.36-30C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4357-30C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21272
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

8-145001080-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001080
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001080
    reference: chr 8
allele count: 4
allele frequency: 3.348737525952716e-5
allele num: 119448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3880-30C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4357-30C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.36-30C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3946-30C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3946-30C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3850-30C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3958-30C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4015-30C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4027-30C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3904-30C>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12527
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/8-145001085-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001085
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001085
    reference: chr 8
allele count: 1
allele frequency: 8.372264362619514e-6
allele num: 119442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3946-35G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3946-35G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.36-35G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4357-35G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4027-35G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3880-35G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3850-35G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3958-35G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4015-35G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3904-35G>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12326
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

8-145001091-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001091
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001091
    reference: chr 8
allele count: 1
allele frequency: 8.376612497905846e-6
allele num: 119380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4015-41G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3958-41G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3850-41G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.36-41G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3946-41G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3880-41G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4357-41G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4027-41G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3946-41G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3904-41G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

8-145001120-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001120
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001120
    reference: chr 8
allele count: 1
allele frequency: 8.387010198604401e-6
allele num: 119232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3849+25G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4014+25G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.35+25G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3879+25G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4026+25G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3957+25G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3945+25G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3903+25G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4356+25G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3945+25G>C
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11264
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

8-145001127-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001127
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001127
    reference: chr 8
allele count: 1
allele frequency: 8.387854386847844e-6
allele num: 119220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3957+18C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3849+18C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4026+18C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.35+18C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4014+18C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4356+18C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3879+18C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3945+18C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3903+18C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3945+18C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11223
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-145001132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001132
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001132
    reference: chr 8
allele count: 7
allele frequency: 5.872089121535468e-5
allele num: 119208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3945+13C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3849+13C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4356+13C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.35+13C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4014+13C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3879+13C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3957+13C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3903+13C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3945+13C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4026+13C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3814
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

8-145001132-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001132
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001132
    reference: chr 8
allele count: 2
allele frequency: 1.677739749010134e-5
allele num: 119208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3957+13C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3849+13C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.35+13C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3879+13C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3945+13C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4026+13C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4356+13C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3945+13C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4014+13C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3903+13C>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9345
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-145001133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001133
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001133
    reference: chr 8
allele count: 2
allele frequency: 1.67796496409155e-5
allele num: 119192
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4356+12C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3849+12C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3945+12C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3945+12C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.35+12C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3879+12C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4026+12C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4014+12C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3957+12C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3903+12C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8031
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

8-145001137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001137
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001137
    reference: chr 8
allele count: 1
allele frequency: 8.390387971539804e-6
allele num: 119184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3957+8G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3903+8G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.35+8G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4014+8G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3879+8G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3945+8G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3849+8G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4356+8G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3945+8G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4026+8G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
hgvs: c.4356+8G>A
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

8-145001143-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001143
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001143
    reference: chr 8
allele count: 1
allele frequency: 8.389965601141035e-6
allele num: 119190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3903+2T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4356+2T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4014+2T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3849+2T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3945+2T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3879+2T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3957+2T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3945+2T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4026+2T>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.35+2T>C
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11168
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
hgvs: c.4356+2T>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

8-145001147-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001147
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001147
    reference: chr 8
allele count: 3
allele frequency: 2.515934250251593e-5
allele num: 119240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3847G>A
  hgvsp: ENSP00000381756.2:p.Glu1283Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3955G>A
  hgvsp: ENSP00000350277.2:p.Glu1319Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4354G>A
  hgvsp: ENSP00000323856.4:p.Glu1452Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3877G>A
  hgvsp: ENSP00000347044.2:p.Glu1293Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3943G>A
  hgvsp: ENSP00000344848.3:p.Glu1315Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3901G>A
  hgvsp: ENSP00000348702.3:p.Glu1301Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3943G>A
  hgvsp: ENSP00000346602.3:p.Glu1315Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.33G>A
  hgvsp: ENSP00000433982.1:p.Glu12Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.4012G>A
  hgvsp: ENSP00000434583.1:p.Glu1338Lys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4024G>A
  hgvsp: ENSP00000388180.2:p.Glu1342Lys
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu1452Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

8-145001167-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001167
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001167
    reference: chr 8
allele count: 1
allele frequency: 8.387291575804341e-6
allele num: 119228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3857G>C
  hgvsp: ENSP00000347044.2:p.Gly1286Ala
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3923G>C
  hgvsp: ENSP00000344848.3:p.Gly1308Ala
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.13G>C
  hgvsp: ENSP00000433982.1:p.Gly5Ala
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3881G>C
  hgvsp: ENSP00000348702.3:p.Gly1294Ala
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3935G>C
  hgvsp: ENSP00000350277.2:p.Gly1312Ala
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4004G>C
  hgvsp: ENSP00000388180.2:p.Gly1335Ala
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4334G>C
  hgvsp: ENSP00000323856.4:p.Gly1445Ala
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3923G>C
  hgvsp: ENSP00000346602.3:p.Gly1308Ala
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3827G>C
  hgvsp: ENSP00000381756.2:p.Gly1276Ala
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3992G>C
  hgvsp: ENSP00000434583.1:p.Gly1331Ala
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8122
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly1445Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

8-145001170-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001170
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001170
    reference: chr 8
allele count: 16
allele frequency: 1.342034188320947e-4
allele num: 119222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3878C>T
  hgvsp: ENSP00000348702.3:p.Ser1293Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3920C>T
  hgvsp: ENSP00000344848.3:p.Ser1307Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3920C>T
  hgvsp: ENSP00000346602.3:p.Ser1307Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.10C>T
  hgvsp: ENSP00000433982.1:p.Ser4Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3932C>T
  hgvsp: ENSP00000350277.2:p.Ser1311Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4331C>T
  hgvsp: ENSP00000323856.4:p.Ser1444Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3989C>T
  hgvsp: ENSP00000434583.1:p.Ser1330Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3854C>T
  hgvsp: ENSP00000347044.2:p.Ser1285Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.4001C>T
  hgvsp: ENSP00000388180.2:p.Ser1334Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3824C>T
  hgvsp: ENSP00000381756.2:p.Ser1275Leu
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11184
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9808
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20896
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser1444Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

8-145001172-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001172
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001172
    reference: chr 8
allele count: 1
allele frequency: 8.387150884844418e-6
allele num: 119230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.8G>A
  hgvsp: ENST00000527303.1:c.8G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3918G>A
  hgvsp: ENST00000345136.3:c.3918G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3987G>A
  hgvsp: ENST00000527096.1:c.3987G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4329G>A
  hgvsp: ENST00000322810.4:c.4329G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3918G>A
  hgvsp: ENST00000354589.3:c.3918G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3999G>A
  hgvsp: ENST00000436759.2:c.3999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3852G>A
  hgvsp: ENST00000354958.2:c.3852G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3822G>A
  hgvsp: ENST00000398774.2:c.3822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3876G>A
  hgvsp: ENST00000356346.3:c.3876G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3930G>A
  hgvsp: ENST00000357649.2:c.3930G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln1443Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

8-145001174-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001174
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001174
    reference: chr 8
allele count: 1
allele frequency: 8.386728840283135e-6
allele num: 119236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3997C>T
  hgvsp: ENSP00000388180.2:p.Gln1333Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3820C>T
  hgvsp: ENSP00000381756.2:p.Gln1274Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3874C>T
  hgvsp: ENSP00000348702.3:p.Gln1292Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4327C>T
  hgvsp: ENSP00000323856.4:p.Gln1443Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.6C>T
  hgvsp: ENSP00000433982.1:p.Gln3Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3985C>T
  hgvsp: ENSP00000434583.1:p.Gln1329Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3916C>T
  hgvsp: ENSP00000344848.3:p.Gln1306Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3850C>T
  hgvsp: ENSP00000347044.2:p.Gln1284Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3916C>T
  hgvsp: ENSP00000346602.3:p.Gln1306Ter
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3928C>T
  hgvsp: ENSP00000350277.2:p.Gln1310Ter
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11163
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln1443Ter
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

8-145001175-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001175
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001175
    reference: chr 8
allele count: 22
allele frequency: 1.845142243692968e-4
allele num: 119232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3849C>T
  hgvsp: ENST00000354958.2:c.3849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3996C>T
  hgvsp: ENST00000436759.2:c.3996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3984C>T
  hgvsp: ENST00000527096.1:c.3984C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3915C>T
  hgvsp: ENST00000354589.3:c.3915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000433982
  ensembl transcript: ENST00000527303
  gene symbol: PLEC
  hgvsc: ENST00000527303.1:c.5C>T
  hgvsp: ENST00000527303.1:c.5C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3927C>T
  hgvsp: ENST00000357649.2:c.3927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4326C>T
  hgvsp: ENST00000322810.4:c.4326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3873C>T
  hgvsp: ENST00000356346.3:c.3873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3819C>T
  hgvsp: ENST00000398774.2:c.3819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3915C>T
  hgvsp: ENST00000345136.3:c.3915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11161
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20932
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val1442Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-145001193-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001193
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001193
    reference: chr 8
allele count: 1
allele frequency: 8.391655337931961e-6
allele num: 119166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3978G>C
  hgvsp: ENST00000436759.2:c.3978G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3966G>C
  hgvsp: ENST00000527096.1:c.3966G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3831G>C
  hgvsp: ENST00000354958.2:c.3831G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4308G>C
  hgvsp: ENST00000322810.4:c.4308G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3855G>C
  hgvsp: ENST00000356346.3:c.3855G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3897G>C
  hgvsp: ENST00000354589.3:c.3897G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3897G>C
  hgvsp: ENST00000345136.3:c.3897G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3909G>C
  hgvsp: ENST00000357649.2:c.3909G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3801G>C
  hgvsp: ENST00000398774.2:c.3801G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro1436Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

8-145001193-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001193
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001193
    reference: chr 8
allele count: 3
allele frequency: 2.517496601379588e-5
allele num: 119166
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4308G>A
  hgvsp: ENST00000322810.4:c.4308G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3909G>A
  hgvsp: ENST00000357649.2:c.3909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3978G>A
  hgvsp: ENST00000436759.2:c.3978G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3801G>A
  hgvsp: ENST00000398774.2:c.3801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3831G>A
  hgvsp: ENST00000354958.2:c.3831G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3966G>A
  hgvsp: ENST00000527096.1:c.3966G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3897G>A
  hgvsp: ENST00000345136.3:c.3897G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3897G>A
  hgvsp: ENST00000354589.3:c.3897G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3855G>A
  hgvsp: ENST00000356346.3:c.3855G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11154
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro1436Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

8-145001194-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001194
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001194
    reference: chr 8
allele count: 5
allele frequency: 4.196461543626414e-5
allele num: 119148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3854C>T
  hgvsp: ENSP00000348702.3:p.Pro1285Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4307C>T
  hgvsp: ENSP00000323856.4:p.Pro1436Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3965C>T
  hgvsp: ENSP00000434583.1:p.Pro1322Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3896C>T
  hgvsp: ENSP00000344848.3:p.Pro1299Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3830C>T
  hgvsp: ENSP00000347044.2:p.Pro1277Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3977C>T
  hgvsp: ENSP00000388180.2:p.Pro1326Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3800C>T
  hgvsp: ENSP00000381756.2:p.Pro1267Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3896C>T
  hgvsp: ENSP00000346602.3:p.Pro1299Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3908C>T
  hgvsp: ENSP00000350277.2:p.Pro1303Leu
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro1436Leu
num of homozygotes: 1
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-145001194-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001194
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001194
    reference: chr 8
allele count: 1
allele frequency: 8.392923087252828e-6
allele num: 119148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3908C>A
  hgvsp: ENSP00000350277.2:p.Pro1303Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3854C>A
  hgvsp: ENSP00000348702.3:p.Pro1285Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3896C>A
  hgvsp: ENSP00000346602.3:p.Pro1299Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3965C>A
  hgvsp: ENSP00000434583.1:p.Pro1322Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3896C>A
  hgvsp: ENSP00000344848.3:p.Pro1299Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3800C>A
  hgvsp: ENSP00000381756.2:p.Pro1267Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4307C>A
  hgvsp: ENSP00000323856.4:p.Pro1436Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3830C>A
  hgvsp: ENSP00000347044.2:p.Pro1277Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3977C>A
  hgvsp: ENSP00000388180.2:p.Pro1326Gln
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10708
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8018
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1436Gln
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-145001197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001197
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001197
    reference: chr 8
allele count: 1
allele frequency: 8.394614015647561e-6
allele num: 119124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3797C>T
  hgvsp: ENSP00000381756.2:p.Ser1266Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4304C>T
  hgvsp: ENSP00000323856.4:p.Ser1435Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3851C>T
  hgvsp: ENSP00000348702.3:p.Ser1284Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3893C>T
  hgvsp: ENSP00000344848.3:p.Ser1298Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3962C>T
  hgvsp: ENSP00000434583.1:p.Ser1321Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3974C>T
  hgvsp: ENSP00000388180.2:p.Ser1325Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3905C>T
  hgvsp: ENSP00000350277.2:p.Ser1302Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3827C>T
  hgvsp: ENSP00000347044.2:p.Ser1276Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3893C>T
  hgvsp: ENSP00000346602.3:p.Ser1298Phe
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20925
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser1435Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

8-145001201-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001201
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001201
    reference: chr 8
allele count: 1
allele frequency: 8.398421096833796e-6
allele num: 119070
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4300G>A
  hgvsp: ENSP00000323856.4:p.Ala1434Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3889G>A
  hgvsp: ENSP00000344848.3:p.Ala1297Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3823G>A
  hgvsp: ENSP00000347044.2:p.Ala1275Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3958G>A
  hgvsp: ENSP00000434583.1:p.Ala1320Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3793G>A
  hgvsp: ENSP00000381756.2:p.Ala1265Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3847G>A
  hgvsp: ENSP00000348702.3:p.Ala1283Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3901G>A
  hgvsp: ENSP00000350277.2:p.Ala1301Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3970G>A
  hgvsp: ENSP00000388180.2:p.Ala1324Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3889G>A
  hgvsp: ENSP00000346602.3:p.Ala1297Thr
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala1434Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

8-145001205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001205
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001205
    reference: chr 8
allele count: 183
allele frequency: 1.537711750470557e-3
allele num: 119008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3819G>A
  hgvsp: ENST00000354958.2:c.3819G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3954G>A
  hgvsp: ENST00000527096.1:c.3954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3885G>A
  hgvsp: ENST00000345136.3:c.3885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3789G>A
  hgvsp: ENST00000398774.2:c.3789G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4296G>A
  hgvsp: ENST00000322810.4:c.4296G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3897G>A
  hgvsp: ENST00000357649.2:c.3897G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3966G>A
  hgvsp: ENST00000436759.2:c.3966G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3885G>A
  hgvsp: ENST00000354589.3:c.3885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3843G>A
  hgvsp: ENST00000356346.3:c.3843G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11078
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 20877
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9406
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro1432Pro
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

8-145001206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001206
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001206
    reference: chr 8
allele count: 3
allele frequency: 2.521093145988101e-5
allele num: 118996
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4295C>T
  hgvsp: ENSP00000323856.4:p.Pro1432Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3884C>T
  hgvsp: ENSP00000346602.3:p.Pro1295Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3842C>T
  hgvsp: ENSP00000348702.3:p.Pro1281Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3953C>T
  hgvsp: ENSP00000434583.1:p.Pro1318Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3788C>T
  hgvsp: ENSP00000381756.2:p.Pro1263Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3884C>T
  hgvsp: ENSP00000344848.3:p.Pro1295Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3818C>T
  hgvsp: ENSP00000347044.2:p.Pro1273Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3896C>T
  hgvsp: ENSP00000350277.2:p.Pro1299Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3965C>T
  hgvsp: ENSP00000388180.2:p.Pro1322Leu
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro1432Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

8-145001207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001207
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001207
    reference: chr 8
allele count: 4
allele frequency: 3.361853053403036e-5
allele num: 118982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3964C>T
  hgvsp: ENSP00000388180.2:p.Pro1322Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3883C>T
  hgvsp: ENSP00000346602.3:p.Pro1295Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3787C>T
  hgvsp: ENSP00000381756.2:p.Pro1263Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3895C>T
  hgvsp: ENSP00000350277.2:p.Pro1299Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3817C>T
  hgvsp: ENSP00000347044.2:p.Pro1273Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3883C>T
  hgvsp: ENSP00000344848.3:p.Pro1295Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3952C>T
  hgvsp: ENSP00000434583.1:p.Pro1318Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4294C>T
  hgvsp: ENSP00000323856.4:p.Pro1432Ser
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3841C>T
  hgvsp: ENSP00000348702.3:p.Pro1281Ser
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11065
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10663
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 26662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro1432Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

8-145001213-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001213
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001213
    reference: chr 8
allele count: 2
allele frequency: 1.682029200026912e-5
allele num: 118904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3877C>T
  hgvsp: ENSP00000344848.3:p.Leu1293Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3877C>T
  hgvsp: ENSP00000346602.3:p.Leu1293Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3811C>T
  hgvsp: ENSP00000347044.2:p.Leu1271Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3946C>T
  hgvsp: ENSP00000434583.1:p.Leu1316Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3958C>T
  hgvsp: ENSP00000388180.2:p.Leu1320Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4288C>T
  hgvsp: ENSP00000323856.4:p.Leu1430Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3835C>T
  hgvsp: ENSP00000348702.3:p.Leu1279Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3889C>T
  hgvsp: ENSP00000350277.2:p.Leu1297Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3781C>T
  hgvsp: ENSP00000381756.2:p.Leu1261Phe
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11037
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu1430Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

8-145001214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001214
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001214
    reference: chr 8
allele count: 2
allele frequency: 1.68214237653075e-5
allele num: 118896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3834G>A
  hgvsp: ENST00000356346.3:c.3834G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3780G>A
  hgvsp: ENST00000398774.2:c.3780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3945G>A
  hgvsp: ENST00000527096.1:c.3945G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4287G>A
  hgvsp: ENST00000322810.4:c.4287G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3810G>A
  hgvsp: ENST00000354958.2:c.3810G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3888G>A
  hgvsp: ENST00000357649.2:c.3888G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3876G>A
  hgvsp: ENST00000354589.3:c.3876G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3876G>A
  hgvsp: ENST00000345136.3:c.3876G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3957G>A
  hgvsp: ENST00000436759.2:c.3957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln1429Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

8-145001217-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001217
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001217
    reference: chr 8
allele count: 35
allele frequency: 2.945582467893151e-4
allele num: 118822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3873G>A
  hgvsp: ENST00000345136.3:c.3873G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3777G>A
  hgvsp: ENST00000398774.2:c.3777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3873G>A
  hgvsp: ENST00000354589.3:c.3873G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3807G>A
  hgvsp: ENST00000354958.2:c.3807G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3831G>A
  hgvsp: ENST00000356346.3:c.3831G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3942G>A
  hgvsp: ENST00000527096.1:c.3942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3954G>A
  hgvsp: ENST00000436759.2:c.3954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4284G>A
  hgvsp: ENST00000322810.4:c.4284G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3885G>A
  hgvsp: ENST00000357649.2:c.3885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 9311
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10998
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1428Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

8-145001219-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001219
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001219
    reference: chr 8
allele count: 1
allele frequency: 8.416799932665601e-6
allele num: 118810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3883G>A
  hgvsp: ENSP00000350277.2:p.Ala1295Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3871G>A
  hgvsp: ENSP00000344848.3:p.Ala1291Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3805G>A
  hgvsp: ENSP00000347044.2:p.Ala1269Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4282G>A
  hgvsp: ENSP00000323856.4:p.Ala1428Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3940G>A
  hgvsp: ENSP00000434583.1:p.Ala1314Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3952G>A
  hgvsp: ENSP00000388180.2:p.Ala1318Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3775G>A
  hgvsp: ENSP00000381756.2:p.Ala1259Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3871G>A
  hgvsp: ENSP00000346602.3:p.Ala1291Thr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3829G>A
  hgvsp: ENSP00000348702.3:p.Ala1277Thr
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3752
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10652
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala1428Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

8-145001221-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001221
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001221
    reference: chr 8
allele count: 323
allele frequency: 2.719038319078726e-3
allele num: 118792
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3881A>G
  hgvsp: ENSP00000350277.2:p.Lys1294Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3773A>G
  hgvsp: ENSP00000381756.2:p.Lys1258Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3938A>G
  hgvsp: ENSP00000434583.1:p.Lys1313Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4280A>G
  hgvsp: ENSP00000323856.4:p.Lys1427Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3803A>G
  hgvsp: ENSP00000347044.2:p.Lys1268Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3950A>G
  hgvsp: ENSP00000388180.2:p.Lys1317Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3827A>G
  hgvsp: ENSP00000348702.3:p.Lys1276Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3869A>G
  hgvsp: ENSP00000346602.3:p.Lys1290Arg
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3869A>G
  hgvsp: ENSP00000344848.3:p.Lys1290Arg
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 9.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 20438
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 3.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 10906
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys1427Arg
num of homozygotes: 4
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

8-145001224-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001224
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001224
    reference: chr 8
allele count: 12
allele frequency: 1.010526315789474e-4
allele num: 118750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3800A>T
  hgvsp: ENSP00000347044.2:p.Tyr1267Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3824A>T
  hgvsp: ENSP00000348702.3:p.Tyr1275Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3935A>T
  hgvsp: ENSP00000434583.1:p.Tyr1312Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3947A>T
  hgvsp: ENSP00000388180.2:p.Tyr1316Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3866A>T
  hgvsp: ENSP00000346602.3:p.Tyr1289Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3866A>T
  hgvsp: ENSP00000344848.3:p.Tyr1289Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3770A>T
  hgvsp: ENSP00000381756.2:p.Tyr1257Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3878A>T
  hgvsp: ENSP00000350277.2:p.Tyr1293Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4277A>T
  hgvsp: ENSP00000323856.4:p.Tyr1426Phe
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20411
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr1426Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

8-145001226-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001226
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001226
    reference: chr 8
allele count: 4
allele frequency: 3.369953494641774e-5
allele num: 118696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3864G>A
  hgvsp: ENST00000345136.3:c.3864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3933G>A
  hgvsp: ENST00000527096.1:c.3933G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4275G>A
  hgvsp: ENST00000322810.4:c.4275G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3876G>A
  hgvsp: ENST00000357649.2:c.3876G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3768G>A
  hgvsp: ENST00000398774.2:c.3768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3798G>A
  hgvsp: ENST00000354958.2:c.3798G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3945G>A
  hgvsp: ENST00000436759.2:c.3945G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3822G>A
  hgvsp: ENST00000356346.3:c.3822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3864G>A
  hgvsp: ENST00000354589.3:c.3864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20286
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3700
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr1425Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-145001227-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001227
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001227
    reference: chr 8
allele count: 9
allele frequency: 7.582650894752806e-5
allele num: 118692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3875C>T
  hgvsp: ENSP00000350277.2:p.Thr1292Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3932C>T
  hgvsp: ENSP00000434583.1:p.Thr1311Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3797C>T
  hgvsp: ENSP00000347044.2:p.Thr1266Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3821C>T
  hgvsp: ENSP00000348702.3:p.Thr1274Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4274C>T
  hgvsp: ENSP00000323856.4:p.Thr1425Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3863C>T
  hgvsp: ENSP00000344848.3:p.Thr1288Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3863C>T
  hgvsp: ENSP00000346602.3:p.Thr1288Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3767C>T
  hgvsp: ENSP00000381756.2:p.Thr1256Met
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3944C>T
  hgvsp: ENSP00000388180.2:p.Thr1315Met
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10804
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20189
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr1425Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

8-145001231-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001231
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001231
    reference: chr 8
allele count: 1
allele frequency: 8.429286713758282e-6
allele num: 118634
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3871G>C
  hgvsp: ENSP00000350277.2:p.Val1291Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3793G>C
  hgvsp: ENSP00000347044.2:p.Val1265Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3859G>C
  hgvsp: ENSP00000346602.3:p.Val1287Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3928G>C
  hgvsp: ENSP00000434583.1:p.Val1310Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3859G>C
  hgvsp: ENSP00000344848.3:p.Val1287Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3763G>C
  hgvsp: ENSP00000381756.2:p.Val1255Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3940G>C
  hgvsp: ENSP00000388180.2:p.Val1314Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3817G>C
  hgvsp: ENSP00000348702.3:p.Val1273Leu
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4270G>C
  hgvsp: ENSP00000323856.4:p.Val1424Leu
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4971
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val1424Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

8-145001238-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001238
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001238
    reference: chr 8
allele count: 1
allele frequency: 8.443093549476529e-6
allele num: 118440
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3852C>G
  hgvsp: ENST00000345136.3:c.3852C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3786C>G
  hgvsp: ENST00000354958.2:c.3786C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3921C>G
  hgvsp: ENST00000527096.1:c.3921C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4263C>G
  hgvsp: ENST00000322810.4:c.4263C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3810C>G
  hgvsp: ENST00000356346.3:c.3810C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3852C>G
  hgvsp: ENST00000354589.3:c.3852C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3933C>G
  hgvsp: ENST00000436759.2:c.3933C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3756C>G
  hgvsp: ENST00000398774.2:c.3756C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3864C>G
  hgvsp: ENST00000357649.2:c.3864C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10563
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24640
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu1421Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ

8-145001240-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001240
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001240
    reference: chr 8
allele count: 1
allele frequency: 8.446231291597689e-6
allele num: 118396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3808C>T
  hgvsp: ENSP00000348702.3:p.Leu1270Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3862C>T
  hgvsp: ENSP00000350277.2:p.Leu1288Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3754C>T
  hgvsp: ENSP00000381756.2:p.Leu1252Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3931C>T
  hgvsp: ENSP00000388180.2:p.Leu1311Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3784C>T
  hgvsp: ENSP00000347044.2:p.Leu1262Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3850C>T
  hgvsp: ENSP00000346602.3:p.Leu1284Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3850C>T
  hgvsp: ENSP00000344848.3:p.Leu1284Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3919C>T
  hgvsp: ENSP00000434583.1:p.Leu1307Phe
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4261C>T
  hgvsp: ENSP00000323856.4:p.Leu1421Phe
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10360
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10563
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu1421Phe
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

8-145001243-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001243
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001243
    reference: chr 8
allele count: 1
allele frequency: 8.452370890034655e-6
allele num: 118310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3859G>C
  hgvsp: ENSP00000350277.2:p.Glu1287Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4258G>C
  hgvsp: ENSP00000323856.4:p.Glu1420Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3847G>C
  hgvsp: ENSP00000344848.3:p.Glu1283Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3751G>C
  hgvsp: ENSP00000381756.2:p.Glu1251Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3928G>C
  hgvsp: ENSP00000388180.2:p.Glu1310Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3916G>C
  hgvsp: ENSP00000434583.1:p.Glu1306Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3805G>C
  hgvsp: ENSP00000348702.3:p.Glu1269Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3847G>C
  hgvsp: ENSP00000346602.3:p.Glu1283Gln
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3781G>C
  hgvsp: ENSP00000347044.2:p.Glu1261Gln
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu1420Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

8-145001245-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001245
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001245
    reference: chr 8
allele count: 2
allele frequency: 1.691246110133947e-5
allele num: 118256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3779A>G
  hgvsp: ENSP00000347044.2:p.Tyr1260Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3803A>G
  hgvsp: ENSP00000348702.3:p.Tyr1268Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3845A>G
  hgvsp: ENSP00000344848.3:p.Tyr1282Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3749A>G
  hgvsp: ENSP00000381756.2:p.Tyr1250Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3914A>G
  hgvsp: ENSP00000434583.1:p.Tyr1305Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3857A>G
  hgvsp: ENSP00000350277.2:p.Tyr1286Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3926A>G
  hgvsp: ENSP00000388180.2:p.Tyr1309Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3845A>G
  hgvsp: ENSP00000346602.3:p.Tyr1282Cys
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4256A>G
  hgvsp: ENSP00000323856.4:p.Tyr1419Cys
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18314
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr1419Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

8-145001247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001247
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001247
    reference: chr 8
allele count: 1
allele frequency: 8.462384700008463e-6
allele num: 118170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3843C>T
  hgvsp: ENST00000345136.3:c.3843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3912C>T
  hgvsp: ENST00000527096.1:c.3912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3801C>T
  hgvsp: ENST00000356346.3:c.3801C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3855C>T
  hgvsp: ENST00000357649.2:c.3855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3777C>T
  hgvsp: ENST00000354958.2:c.3777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4254C>T
  hgvsp: ENST00000322810.4:c.4254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3747C>T
  hgvsp: ENST00000398774.2:c.3747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3924C>T
  hgvsp: ENST00000436759.2:c.3924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3843C>T
  hgvsp: ENST00000354589.3:c.3843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8755
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
hgvs: c.4254C>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

8-145001248-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001248
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001248
    reference: chr 8
allele count: 1
allele frequency: 8.462671157524161e-6
allele num: 118166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3800A>G
  hgvsp: ENSP00000348702.3:p.Asp1267Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3776A>G
  hgvsp: ENSP00000347044.2:p.Asp1259Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3854A>G
  hgvsp: ENSP00000350277.2:p.Asp1285Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3923A>G
  hgvsp: ENSP00000388180.2:p.Asp1308Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3842A>G
  hgvsp: ENSP00000344848.3:p.Asp1281Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4253A>G
  hgvsp: ENSP00000323856.4:p.Asp1418Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3911A>G
  hgvsp: ENSP00000434583.1:p.Asp1304Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3842A>G
  hgvsp: ENSP00000346602.3:p.Asp1281Gly
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3746A>G
  hgvsp: ENSP00000381756.2:p.Asp1249Gly
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10060
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp1418Gly
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS

http://identifiers.org/exac.variant/8-145001249-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001249
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001249
    reference: chr 8
allele count: 3
allele frequency: 2.539876054048562e-5
allele num: 118116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3775G>T
  hgvsp: ENSP00000347044.2:p.Asp1259Tyr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3922G>T
  hgvsp: ENSP00000388180.2:p.Asp1308Tyr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3799G>T
  hgvsp: ENSP00000348702.3:p.Asp1267Tyr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3841G>T
  hgvsp: ENSP00000346602.3:p.Asp1281Tyr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4252G>T
  hgvsp: ENSP00000323856.4:p.Asp1418Tyr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3745G>T
  hgvsp: ENSP00000381756.2:p.Asp1249Tyr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3910G>T
  hgvsp: ENSP00000434583.1:p.Asp1304Tyr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3841G>T
  hgvsp: ENSP00000344848.3:p.Asp1281Tyr
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3853G>T
  hgvsp: ENSP00000350277.2:p.Asp1285Tyr
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17799
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10050
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp1418Tyr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

8-145001255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001255
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001255
    reference: chr 8
allele count: 1
allele frequency: 8.50065455040038e-6
allele num: 117638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3745-6C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3922-6C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3799-6C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3841-6C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3910-6C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3775-6C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3841-6C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4252-6C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3853-6C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9591
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 4.75e1
  variant carriers: 0
hgvs: c.4252-6C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD

8-145001266-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001266
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001266
    reference: chr 8
allele count: 3
allele frequency: 2.564672491322858e-5
allele num: 116974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3841-17G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4252-17G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3775-17G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3853-17G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3922-17G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3910-17G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3745-17G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3841-17G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3799-17G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13588
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/8-145001266-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001266
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001266
    reference: chr 8
allele count: 1
allele frequency: 8.548908304409527e-6
allele num: 116974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3910-17G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3745-17G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3853-17G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3922-17G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3799-17G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3841-17G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3775-17G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3841-17G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4252-17G>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3704
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

8-145001266-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001266
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001266
    reference: chr 8
allele count: 1
allele frequency: 8.548908304409527e-6
allele num: 116974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3910-17G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3799-17G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3775-17G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3841-17G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3922-17G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3853-17G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3841-17G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3745-17G>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4252-17G>C
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10550
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

8-145001267-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001267
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001267
    reference: chr 8
allele count: 18062
allele frequency: 1.549641374103435e-1
allele num: 116556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3853-18C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3841-18C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4252-18C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3799-18C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3775-18C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3910-18C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3745-18C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3922-18C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3841-18C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8528
  bin: 3.25e1
  variant carriers: 2630
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 1.25e1
  variant carriers: 733
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 1.75e1
  variant carriers: 1610
genotype depth: GenotypeDepth
  all individuals: 13124
  bin: 2.75e1
  variant carriers: 2879
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 9.75e1
  variant carriers: 1117
genotype depth: GenotypeDepth
  all individuals: 9212
  bin: 2.25e1
  variant carriers: 2565
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.25e1
  variant carriers: 343
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 7.5e0
  variant carriers: 206
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 4.75e1
  variant carriers: 743
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 3.75e1
  variant carriers: 1861
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 4.25e1
  variant carriers: 1182
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 4.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 4.75e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.5e0
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 5.75e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 7.75e1
  variant carriers: 130
num of homozygotes: 1705
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

8-145001290-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001290
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001290
    reference: chr 8
allele count: 2
allele frequency: 1.741189580721549e-5
allele num: 114864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3910-41G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3775-41G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4252-41G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3841-41G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3745-41G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3841-41G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3922-41G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3853-41G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3799-41G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11210
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

8-145001291-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001291
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001291
    reference: chr 8
allele count: 5
allele frequency: 4.358969888236012e-5
allele num: 114706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3775-42C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4252-42C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3841-42C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3910-42C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3853-42C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3841-42C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3799-42C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3745-42C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3922-42C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-145001294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001294
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001294
    reference: chr 8
allele count: 1
allele frequency: 8.709435802748698e-6
allele num: 114818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3841-45C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3775-45C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4252-45C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3922-45C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3853-45C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3841-45C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3910-45C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3799-45C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3745-45C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

8-145001300-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001300
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001300
    reference: chr 8
allele count: 39293
allele frequency: 3.436805737776611e-1
allele num: 114330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3745-51A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3841-51A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3910-51A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4252-51A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3775-51A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3841-51A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3799-51A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3853-51A>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3922-51A>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.75e1
  variant carriers: 1212
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.25e1
  variant carriers: 294
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.25e1
  variant carriers: 290
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 4.25e1
  variant carriers: 2101
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.75e1
  variant carriers: 294
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 1.75e1
  variant carriers: 3551
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 360
genotype depth: GenotypeDepth
  all individuals: 10682
  bin: 2.25e1
  variant carriers: 5226
genotype depth: GenotypeDepth
  all individuals: 11200
  bin: 2.75e1
  variant carriers: 5483
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 1.25e1
  variant carriers: 1908
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 9.75e1
  variant carriers: 1624
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 7.5e0
  variant carriers: 781
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 471
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.75e1
  variant carriers: 280
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 3.25e1
  variant carriers: 4593
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.25e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 3.75e1
  variant carriers: 3260
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 5.25e1
  variant carriers: 712
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 278
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 3.25e1
  variant carriers: 225
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 5.25e1
  variant carriers: 430
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 285
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 4.25e1
  variant carriers: 211
genotype quality: GenotypeQuality
  all individuals: 31388
  bin: 9.75e1
  variant carriers: 27412
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 4.75e1
  variant carriers: 345
num of homozygotes: 7340
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

8-145001301-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001301
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001301
    reference: chr 8
allele count: 4
allele frequency: 3.468909895065476e-5
allele num: 115310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3910-52C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3745-52C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3775-52C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3922-52C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3853-52C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4252-52C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3841-52C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3841-52C>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3799-52C>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11237
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10639
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

8-145001370-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001370
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001370
    reference: chr 8
allele count: 3
allele frequency: 2.513067953357459e-5
allele num: 119376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3921+50G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3744+50G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3852+50G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4251+50G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3774+50G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3840+50G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3909+50G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3798+50G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3840+50G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

8-145001372-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001372
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001372
    reference: chr 8
allele count: 40959
allele frequency: 3.437945911464017e-1
allele num: 119138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3798+48A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4251+48A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3909+48A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3840+48A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3774+48A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3840+48A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3852+48A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3744+48A>G
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3921+48A>G
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11564
  bin: 2.75e1
  variant carriers: 541
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 6.75e1
  variant carriers: 2768
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 5.75e1
  variant carriers: 3066
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 9.75e1
  variant carriers: 4665
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 3.25e1
  variant carriers: 886
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 6.25e1
  variant carriers: 3053
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 5.25e1
  variant carriers: 2797
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 2.25e1
  variant carriers: 363
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 4.75e1
  variant carriers: 2541
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 8.25e1
  variant carriers: 1646
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 292
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 282
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 3.75e1
  variant carriers: 1402
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 7.25e1
  variant carriers: 2432
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 9.25e1
  variant carriers: 1059
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 7.75e1
  variant carriers: 2104
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 4.25e1
  variant carriers: 1917
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 8.75e1
  variant carriers: 1362
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.25e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 7.75e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 42
num of homozygotes: 7827
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

8-145001373-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001373
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001373
    reference: chr 8
allele count: 10
allele frequency: 8.402655239055541e-5
allele num: 119010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3798+47C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3840+47C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4251+47C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3921+47C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3852+47C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3909+47C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3840+47C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3774+47C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3744+47C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

8-145001374-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001374
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001374
    reference: chr 8
allele count: 1
allele frequency: 8.403643819960336e-6
allele num: 118996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3840+46C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3774+46C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3909+46C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3744+46C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3798+46C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4251+46C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3852+46C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3840+46C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3921+46C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

8-145001378-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001378
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001378
    reference: chr 8
allele count: 2
allele frequency: 1.681180861437073e-5
allele num: 118964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3840+42G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4251+42G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3774+42G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3798+42G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3744+42G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3909+42G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3921+42G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3852+42G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3840+42G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4429
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33923
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

8-145001379-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001379
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001379
    reference: chr 8
allele count: 6
allele frequency: 5.043627376809401e-5
allele num: 118962
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4251+41C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3840+41C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3744+41C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3840+41C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3852+41C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3909+41C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3774+41C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3798+41C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3921+41C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33930
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

8-145001381-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001381
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001381
    reference: chr 8
allele count: 2
allele frequency: 1.681576646263537e-5
allele num: 118936
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3852+39A>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3921+39A>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3909+39A>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3840+39A>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3744+39A>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3798+39A>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3840+39A>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4251+39A>C
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3774+39A>C
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33929
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

8-145001383-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001383
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001383
    reference: chr 8
allele count: 3
allele frequency: 2.522364969395305e-5
allele num: 118936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3774+37G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3798+37G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3840+37G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3909+37G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3744+37G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3921+37G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4251+37G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3852+37G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3840+37G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4435
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-145001384-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001384
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001384
    reference: chr 8
allele count: 1
allele frequency: 8.409297319116015e-6
allele num: 118916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3909+36G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3921+36G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4251+36G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3798+36G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3774+36G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3840+36G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3852+36G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3840+36G>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3744+36G>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

8-145001384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001384
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001384
    reference: chr 8
allele count: 13
allele frequency: 1.093208651485082e-4
allele num: 118916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000344848
  ensembl transcript: ENST00000345136
  gene symbol: PLEC
  hgvsc: ENST00000345136.3:c.3840+36G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3798+36G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000434583
  ensembl transcript: ENST00000527096
  gene symbol: PLEC
  hgvsc: ENST00000527096.1:c.3909+36G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3921+36G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000350277
  ensembl transcript: ENST00000357649
  gene symbol: PLEC
  hgvsc: ENST00000357649.2:c.3852+36G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000347044
  ensembl transcript: ENST00000354958
  gene symbol: PLEC
  hgvsc: ENST00000354958.2:c.3774+36G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000323856
  ensembl transcript: ENST00000322810
  gene symbol: PLEC
  hgvsc: ENST00000322810.4:c.4251+36G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000381756
  ensembl transcript: ENST00000398774
  gene symbol: PLEC
  hgvsc: ENST00000398774.2:c.3744+36G>A
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000346602
  ensembl transcript: ENST00000354589
  gene symbol: PLEC
  hgvsc: ENST00000354589.3:c.3840+36G>A
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

8-145001385-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 145001385
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 145001385
    reference: chr 8
allele count: 22
allele frequency: 1.849827629698142e-4
allele num: 118930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000388180
  ensembl transcript: ENST00000436759
  gene symbol: PLEC
  hgvsc: ENST00000436759.2:c.3921+35C>T
  variant of: http://identifiers.org/hgnc/9069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178209
  ensembl protein: ENSP00000348702
  ensembl transcript: ENST00000356346
  gene symbol: PLEC
  hgvsc: ENST00000356346.3:c.3798+35C>T
  variant of: http://identifiers.org/hgnc/9069
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9340
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3869
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1683
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517773123273533e-5
allele num: 65886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.308e1

FS
type: SiteQuality
SIO_000300: 4.396e0

DP
type: SiteQuality
SIO_000300: 2.324333e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: -1.48e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

GenotypeQuality
all individuals: 1681
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24371
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4324
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9175
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10864
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518418415378542e-5
allele num: 65858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.821e0

DP
type: SiteQuality
SIO_000300: 2.318501e6

QD
type: SiteQuality
SIO_000300: 2.921e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.247e0

FS
type: SiteQuality
SIO_000300: 3.381e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24412
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10851
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 258
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2761
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4279
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9070
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.485130111524163e-4
allele num: 8608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.031778786628147e-4
allele num: 9692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65824
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

FS
type: SiteQuality
SIO_000300: 3.342e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 2.312506e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.289e1

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3796
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9070
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 653
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2761
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10851
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4279
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65824
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.424830261881668e-4
allele num: 16496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.312506e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

FS
type: SiteQuality
SIO_000300: 3.342e0

QD
type: SiteQuality
SIO_000300: 1.289e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
all individuals: 8915
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1670
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4250
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10848
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 3767
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2745
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.063797452964955e-4
allele num: 65802
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.686e0

FS
type: SiteQuality
SIO_000300: 5.47e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 2.300683e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

QD
type: SiteQuality
SIO_000300: 1.349e1

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10887
bin: 9.75e1
variant carriers: 178

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1318
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8734
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23474
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 343
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4210
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3730
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65784
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.257336343115124e-3
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 176
allele frequency: 1.067184089255396e-2
allele num: 16492
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 4.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.235e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.487e0

DP
type: SiteQuality
SIO_000300: 2.294767e6

GenotypeQuality
all individuals: 780
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23652
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4201
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 311
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2719
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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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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bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65760
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.033912324234905e-4
allele num: 9672
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: -1.267e0

QD
type: SiteQuality
SIO_000300: 1.157e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 1.6358e1

DP
type: SiteQuality
SIO_000300: 2.284895e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

GenotypeQuality
all individuals: 41
bin: 1.25e1
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: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520866285436184e-5
allele num: 65752
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.688097306689835e-5
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.343e1

VQSLOD
type: SiteQuality
SIO_000300: 5.37e0

MQRankSum
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SIO_000300: 2.76e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.685e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

DP
type: SiteQuality
SIO_000300: 2.281625e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.42600679281902e-4
allele num: 16488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

DP
type: SiteQuality
SIO_000300: 2.281625e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQ
type: SiteQuality
SIO_000300: 5.985e1

VQSLOD
type: SiteQuality
SIO_000300: 5.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.685e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.343e1

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: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.93e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.603e0

FS
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.197e0

VQSLOD
type: SiteQuality
SIO_000300: 3.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.438e1

DP
type: SiteQuality
SIO_000300: 2.276492e6

GenotypeQuality
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bin: 1.25e1
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: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521838380763963e-5
allele num: 65710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.269065e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.059e0

QD
type: SiteQuality
SIO_000300: 1.459e1

FS
type: SiteQuality
SIO_000300: 8.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.223e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e0

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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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522162688748173e-5
allele num: 65696
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.258185e6

MQRankSum
type: SiteQuality
SIO_000300: -8.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

VQSLOD
type: SiteQuality
SIO_000300: -1.313e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.609e0

QD
type: SiteQuality
SIO_000300: 1.499e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.79e1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.57e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.21e-1

FS
type: SiteQuality
SIO_000300: 3.211e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 3.75e1
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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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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213297743266198e-4
allele num: 16484
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.61058175286919e-5
allele num: 65698
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 1.264e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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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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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522116350573838e-5
allele num: 65698
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.034340091021928e-4
allele num: 9668
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 2.260175e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.044603440401888e-5
allele num: 65690
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: 2.35e-1

FS
type: SiteQuality
SIO_000300: 2.394e0

ReadPosRankSum
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SIO_000300: -1.349e0

QD
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SIO_000300: 1.248e1

DP
type: SiteQuality
SIO_000300: 2.259798e6

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.279e0

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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bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65700
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: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.896e0

DP
type: SiteQuality
SIO_000300: 2.260836e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521606816798539e-5
allele num: 65720
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 2.262959e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.488e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.207e0

GenotypeDepth
all individuals: 382
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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: 882
num of homozygotes: 0

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

East Asian
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allele count: 2
allele frequency: 2.323420074349442e-4
allele num: 8608
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 1.956e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.242e1

DP
type: SiteQuality
SIO_000300: 2.264051e6

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.63e0

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

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
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
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: 0
allele frequency: 0.0e0
allele num: 65728
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.033912324234905e-4
allele num: 9672
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.046e0

DP
type: SiteQuality
SIO_000300: 2.265798e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

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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variant carriers: 16

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.582278481012658e-4
allele num: 6320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
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allele count: 13
allele frequency: 1.97790828591425e-4
allele num: 65726
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.034126163391934e-4
allele num: 9670
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 880
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FS
type: SiteQuality
SIO_000300: 1.102e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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SIO_000300: 1.205e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6316
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

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

East Asian
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allele count: 0
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allele num: 8610
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.214e1

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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FS
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

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

Other
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European (Non-Finnish)
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allele num: 65736
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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DP
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BaseQRankSum
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MQ
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QD
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InbreedingCoeff
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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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South Asian
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East Asian
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European (Non-Finnish)
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allele num: 65710
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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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InbreedingCoeff
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ReadPosRankSum
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QD
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DP
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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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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European (Finnish)
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allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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Other
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European (Non-Finnish)
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allele count: 2
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allele num: 65710
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South Asian
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East Asian
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DP
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QD
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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FS
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MQ
type: SiteQuality
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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European (Finnish)
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African
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East Asian
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FS
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QD
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MQRankSum
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MQ
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DP
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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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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African
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European (Non-Finnish)
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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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VQSLOD
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ClippingRankSum
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FS
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DP
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InbreedingCoeff
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QD
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MQRankSum
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MQ
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BaseQRankSum
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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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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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Other
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MQ
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MQRankSum
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QD
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FS
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InbreedingCoeff
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DP
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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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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European (Non-Finnish)
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South Asian
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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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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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.756066411238825e-3
allele num: 6264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.145936981757877e-4
allele num: 9648
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.674757281553398e-4
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 141
allele frequency: 2.148473212653136e-3
allele num: 65628
num of homozygotes: 1

Latino
type: Population
allele count: 15
allele frequency: 1.303667651660003e-3
allele num: 11506
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.138952164009112e-3
allele num: 878
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.285e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

DP
type: SiteQuality
SIO_000300: 2.261993e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

GenotypeQuality
all individuals: 91
bin: 5.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 26787
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variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.571219601389651e-5
allele num: 65628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6262
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: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.25563e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.85e-1

FS
type: SiteQuality
SIO_000300: 2.218e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.289e1

GenotypeQuality
all individuals: 249
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1232
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.095330976472023e-5
allele num: 65624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.871e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -7.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.77e-1

QD
type: SiteQuality
SIO_000300: 8.77e0

DP
type: SiteQuality
SIO_000300: 2.254722e6

GenotypeQuality
all individuals: 10658
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3790
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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: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3278
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9636
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.049338293590291e-5
allele num: 65588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

VQSLOD
type: SiteQuality
SIO_000300: -4.001e-1

FS
type: SiteQuality
SIO_000300: 5.804e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.407e0

QD
type: SiteQuality
SIO_000300: 1.487e1

DP
type: SiteQuality
SIO_000300: 2.251129e6

GenotypeQuality
all individuals: 186
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
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variant carriers: 0

GenotypeQuality
all individuals: 36
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 130
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variant carriers: 0

GenotypeQuality
all individuals: 3786
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.04905936518584e-5
allele num: 65594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

QD
type: SiteQuality
SIO_000300: 1.328e1

FS
type: SiteQuality
SIO_000300: 2.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.579e0

DP
type: SiteQuality
SIO_000300: 2.25111e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

GenotypeQuality
all individuals: 336
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 348
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GenotypeQuality
all individuals: 162
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 10671
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variant carriers: 35

GenotypeQuality
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GenotypeQuality
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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
all individuals: 1228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.22051688890245e-4
allele num: 65546
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.077706212341575e-4
allele num: 9626
num of homozygotes: 0

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

South Asian
type: Population
allele count: 22
allele frequency: 1.335924216662618e-3
allele num: 16468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 2.248412e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

FS
type: SiteQuality
SIO_000300: 1.164e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1275
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526111772426212e-5
allele num: 65526
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.351e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 2.245434e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.204e0

QD
type: SiteQuality
SIO_000300: 1.618e1

VQSLOD
type: SiteQuality
SIO_000300: -2.142e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.844e1

GenotypeQuality
all individuals: 35
bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 316

GenotypeQuality
all individuals: 154
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GenotypeQuality
all individuals: 3228
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 184
allele frequency: 2.808903001251794e-3
allele num: 65506
num of homozygotes: 3

African
type: Population
allele count: 104
allele frequency: 1.079958463136033e-2
allele num: 9630
num of homozygotes: 1

Latino
type: Population
allele count: 30
allele frequency: 2.610511660285416e-3
allele num: 11492
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.681818181818182e-3
allele num: 880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

QD
type: SiteQuality
SIO_000300: 1.393e1

DP
type: SiteQuality
SIO_000300: 2.246825e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 5.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

GenotypeQuality
all individuals: 2492
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 215
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GenotypeQuality
all individuals: 422
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GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7823
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.832508704416346e-4
allele num: 65484
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.69e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

QD
type: SiteQuality
SIO_000300: 1.093e1

DP
type: SiteQuality
SIO_000300: 2.235116e6

GenotypeQuality
all individuals: 429
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7776
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1585
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.660918200885575e-4
allele num: 8582
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

DP
type: SiteQuality
SIO_000300: 2.232853e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.3e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 9

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

GenotypeQuality
all individuals: 7731
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.374969445123442e-4
allele num: 65456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.577e0

DP
type: SiteQuality
SIO_000300: 2.229873e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7681
bin: 6.75e1
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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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6210
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.041016031646887e-4
allele num: 9606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65432
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

DP
type: SiteQuality
SIO_000300: 2.224568e6

VQSLOD
type: SiteQuality
SIO_000300: -4.813e-1

QD
type: SiteQuality
SIO_000300: 1.385e1

MQRankSum
type: SiteQuality
SIO_000300: 2.69e0

FS
type: SiteQuality
SIO_000300: 8.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
all individuals: 370
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
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GenotypeQuality
all individuals: 3597
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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: 1938
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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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GenotypeQuality
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GenotypeQuality
all individuals: 1209
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variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530690341343946e-5
allele num: 65330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.313e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.532e0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

DP
type: SiteQuality
SIO_000300: 2.208569e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3590
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2444
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variant carriers: 0

GenotypeQuality
all individuals: 269
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GenotypeQuality
all individuals: 24205
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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
all individuals: 7446
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GenotypeQuality
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GenotypeQuality
all individuals: 410
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GenotypeQuality
all individuals: 387
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3075
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531159087429184e-5
allele num: 65310
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.203378e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.768e0

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

QD
type: SiteQuality
SIO_000300: 1.327e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7326
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 821
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 920
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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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bin: 8.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 10563
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 473
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65266
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.045150501672241e-4
allele num: 9568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.419e1

VQSLOD
type: SiteQuality
SIO_000300: -2.175e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.475e0

FS
type: SiteQuality
SIO_000300: 5.506e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 2.195637e6

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10562
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3559
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1575
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.172058134083451e-4
allele num: 8532
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532895947023116e-5
allele num: 65236
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

FS
type: SiteQuality
SIO_000300: 3.856e0

MQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 2.189438e6

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 413
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2442
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10560
bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 7252
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GenotypeQuality
all individuals: 389
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.534212948757288e-5
allele num: 65180
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.919e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.935e0

DP
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MQRankSum
type: SiteQuality
SIO_000300: -7.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.923e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.077e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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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bin: 3.75e1
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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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9554
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533883486210388e-5
allele num: 65194
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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QD
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ClippingRankSum
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VQSLOD
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

DP
type: SiteQuality
SIO_000300: 2.180762e6

MQ
type: SiteQuality
SIO_000300: 5.864e1

FS
type: SiteQuality
SIO_000300: 4.298e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.604051565377532e-5
allele num: 65160
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.704e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.359e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.179227e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540784567501772e-5
allele num: 64902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9520
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.141877e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.194e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.484e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.23e0

QD
type: SiteQuality
SIO_000300: 3.39e0

GenotypeQuality
all individuals: 5860
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.057753331922996e-4
allele num: 9454
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.199904007679386e-4
allele num: 8334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64500
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.103515625e-5
allele num: 16384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.533e0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.102566e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 864
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550387596899225e-5
allele num: 64500
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e-1

DP
type: SiteQuality
SIO_000300: 2.102566e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550387596899225e-5
allele num: 64500
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.467e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

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

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 142

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 110

GenotypeQuality
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GenotypeQuality
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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: 90

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 83

European (Finnish)
type: Population
allele count: 1617
allele frequency: 2.623296560674886e-1
allele num: 6164
num of homozygotes: 205

Other
type: Population
allele count: 167
allele frequency: 1.93287037037037e-1
allele num: 864
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South Asian
type: Population
allele count: 1533
allele frequency: 9.358974358974359e-2
allele num: 16380
num of homozygotes: 100

Latino
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allele count: 1103
allele frequency: 9.83416547788873e-2
allele num: 11216
num of homozygotes: 67

East Asian
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allele count: 5
allele frequency: 6.01829561868079e-4
allele num: 8308
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European (Non-Finnish)
type: Population
allele count: 13310
allele frequency: 2.073596310836917e-1
allele num: 64188
num of homozygotes: 1308

African
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allele count: 327
allele frequency: 3.465451462484104e-2
allele num: 9436
num of homozygotes: 10

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

BaseQRankSum
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VQSLOD
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2542
bin: 7.25e1
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GenotypeQuality
all individuals: 3081
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.068832834544677e-4
allele num: 9356
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.587150430117766e-5
allele num: 63006
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

FS
type: SiteQuality
SIO_000300: 9.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

DP
type: SiteQuality
SIO_000300: 1.942412e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2557
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2332
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2010
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1351
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9581
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3101
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5416
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14799
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.130456105934282e-5
allele num: 16312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9340
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.964010920824026e-4
allele num: 8058
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.090000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

DP
type: SiteQuality
SIO_000300: 1.943286e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.61e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.124e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

GenotypeQuality
all individuals: 752
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2989
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4028
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2898
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3191
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16148
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9584
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2614
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62958
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.12369871402327e-5
allele num: 16330
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.947282e6

QD
type: SiteQuality
SIO_000300: 1.752e1

MQRankSum
type: SiteQuality
SIO_000300: -1.031e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

VQSLOD
type: SiteQuality
SIO_000300: -6.457000000000001e-1

FS
type: SiteQuality
SIO_000300: 6.154e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3140
bin: 6.75e1
variant carriers: 523

GenotypeQuality
all individuals: 633
bin: 5.75e1
variant carriers: 323

GenotypeQuality
all individuals: 1836
bin: 2.25e1
variant carriers: 225

GenotypeQuality
all individuals: 491
bin: 7.5e0
variant carriers: 95

GenotypeQuality
all individuals: 653
bin: 2.5e0
variant carriers: 54

GenotypeQuality
all individuals: 7411
bin: 6.25e1
variant carriers: 489

GenotypeQuality
all individuals: 450
bin: 1.75e1
variant carriers: 153

GenotypeQuality
all individuals: 1529
bin: 8.25e1
variant carriers: 484

GenotypeQuality
all individuals: 354
bin: 1.25e1
variant carriers: 104

GenotypeQuality
all individuals: 1926
bin: 7.75e1
variant carriers: 486

GenotypeQuality
all individuals: 810
bin: 8.75e1
variant carriers: 295

GenotypeQuality
all individuals: 1578
bin: 7.25e1
variant carriers: 300

GenotypeQuality
all individuals: 1043
bin: 9.25e1
variant carriers: 466

GenotypeQuality
all individuals: 1026
bin: 2.75e1
variant carriers: 159

European (Finnish)
type: Population
allele count: 2593
allele frequency: 4.121106166560712e-1
allele num: 6292
num of homozygotes: 527

Latino
type: Population
allele count: 2538
allele frequency: 2.316538882803943e-1
allele num: 10956
num of homozygotes: 330

Other
type: Population
allele count: 331
allele frequency: 3.912529550827423e-1
allele num: 846
num of homozygotes: 66

European (Non-Finnish)
type: Population
allele count: 26002
allele frequency: 4.151949669466356e-1
allele num: 62626
num of homozygotes: 5198

African
type: Population
allele count: 752
allele frequency: 8.089500860585198e-2
allele num: 9296
num of homozygotes: 43

East Asian
type: Population
allele count: 1193
allele frequency: 1.49648770697441e-1
allele num: 7972
num of homozygotes: 80

South Asian
type: Population
allele count: 5884
allele frequency: 3.600538489780933e-1
allele num: 16342
num of homozygotes: 1096

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 2.042437e6

QD
type: SiteQuality
SIO_000300: 1.997e1

GenotypeQuality
all individuals: 1209
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1534
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2209
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3955
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2579
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1352
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2550
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5271
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2279
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14226
bin: 9.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.214744963566224e-4
allele num: 9332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581777918380259e-5
allele num: 63220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

FS
type: SiteQuality
SIO_000300: 1.046e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.34e-1

DP
type: SiteQuality
SIO_000300: 2.053467e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.144e0

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

QD
type: SiteQuality
SIO_000300: 1.38e1

GenotypeQuality
all individuals: 1417
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34112
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 485
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15040
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65776
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.823043266893534e-4
allele num: 16456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.012e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

DP
type: SiteQuality
SIO_000300: 3.110296e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

VQSLOD
type: SiteQuality
SIO_000300: -1.682e0

FS
type: SiteQuality
SIO_000300: 1.1501e1

QD
type: SiteQuality
SIO_000300: 1.379e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.409e0

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 50

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 44

GenotypeQuality
all individuals: 4126
bin: 6.75e1
variant carriers: 44

GenotypeQuality
all individuals: 1160
bin: 7.25e1
variant carriers: 69

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 32

GenotypeQuality
all individuals: 14902
bin: 6.25e1
variant carriers: 56

GenotypeQuality
all individuals: 417
bin: 9.25e1
variant carriers: 116

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 55

GenotypeQuality
all individuals: 36060
bin: 9.75e1
variant carriers: 32386

GenotypeQuality
all individuals: 371
bin: 2.25e1
variant carriers: 30

GenotypeQuality
all individuals: 320
bin: 8.75e1
variant carriers: 86

GenotypeQuality
all individuals: 200
bin: 2.5e0
variant carriers: 15

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 27

GenotypeQuality
all individuals: 131
bin: 3.75e1
variant carriers: 49

African
type: Population
allele count: 771
allele frequency: 8.086847073631215e-2
allele num: 9534
num of homozygotes: 45

Other
type: Population
allele count: 344
allele frequency: 3.865168539325843e-1
allele num: 890
num of homozygotes: 69

European (Finnish)
type: Population
allele count: 2699
allele frequency: 4.093114952987564e-1
allele num: 6594
num of homozygotes: 555

Latino
type: Population
allele count: 2652
allele frequency: 2.312118570183086e-1
allele num: 11470
num of homozygotes: 358

European (Non-Finnish)
type: Population
allele count: 27300
allele frequency: 4.15828916103089e-1
allele num: 65652
num of homozygotes: 5599

East Asian
type: Population
allele count: 1273
allele frequency: 1.488192658405424e-1
allele num: 8554
num of homozygotes: 95

South Asian
type: Population
allele count: 5920
allele frequency: 3.600097299927025e-1
allele num: 16444
num of homozygotes: 1106

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.92e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 3.164946e6

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

QD
type: SiteQuality
SIO_000300: 1.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

GenotypeQuality
all individuals: 15417
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4421
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33922
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.526764176005374e-4
allele num: 65498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

QD
type: SiteQuality
SIO_000300: 1.493e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.722e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.237157e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4418
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33923
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 126
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52699731248473e-5
allele num: 65488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.605e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.943e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.958e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

DP
type: SiteQuality
SIO_000300: 3.237163e6

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.5e0
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GenotypeQuality
all individuals: 1401
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15464
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.086427267194157e-5
allele num: 16430
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527557130636686e-5
allele num: 65464
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.237197e6

QD
type: SiteQuality
SIO_000300: 1.521e1

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 5.476e0

VQSLOD
type: SiteQuality
SIO_000300: -9.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.805e0

GenotypeQuality
all individuals: 1317
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4432
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15535
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167406023815083e-4
allele num: 8566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.054647646393989e-5
allele num: 65474
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.217433649866082e-4
allele num: 16428
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.052188552188552e-4
allele num: 9504
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

DP
type: SiteQuality
SIO_000300: 3.237581e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

QD
type: SiteQuality
SIO_000300: 1.668e1

FS
type: SiteQuality
SIO_000300: 6.67e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

GenotypeQuality
all individuals: 15542
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4439
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9504
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73973556019485e-4
allele num: 11496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.95e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e-1

QD
type: SiteQuality
SIO_000300: 1.514e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.237578e6

GenotypeQuality
all individuals: 1396
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15570
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33929
bin: 9.75e1
variant carriers: 3

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.583091447951358e-5
allele num: 65458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.112e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

DP
type: SiteQuality
SIO_000300: 3.237818e6

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.98e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.63e-1

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15579
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33924
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528164063693878e-5
allele num: 65438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.486e1

FS
type: SiteQuality
SIO_000300: 7.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.05e0

DP
type: SiteQuality
SIO_000300: 3.238309e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-2

GenotypeQuality
all individuals: 122
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4430
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33924
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 907
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.104820037886761e-4
allele num: 9502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.056328127387756e-5
allele num: 65438
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.479118470717156e-4
allele num: 16426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e-1

FS
type: SiteQuality
SIO_000300: 7.52e-1

QD
type: SiteQuality
SIO_000300: 1.486e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-2

DP
type: SiteQuality
SIO_000300: 3.238309e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.05e0