22-33700333-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700333
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700333
    reference: chr 22
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1612G>A
  hgvsp: ENSP00000388544.2:p.Gly538Ser
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1456G>A
  hgvsp: ENSP00000385223.1:p.Gly486Ser
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1612G>A
  hgvsp: ENSP00000347088.2:p.Gly538Ser
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.643G>A
  hgvsp: ENSP00000476364.1:p.Gly215Ser
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.1009G>A
  hgvsp: ENSP00000407917.2:p.Gly337Ser
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1456G>A
  hgvsp: ENSP00000336636.2:p.Gly486Ser
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1612G>A
  hgvsp: ENSP00000380549.2:p.Gly538Ser
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.643G>A
  hgvsp: ENSP00000476866.1:p.Gly215Ser
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11738G>A
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly538Ser
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

22-33700338-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700338
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700338
    reference: chr 22
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1607A>G
  hgvsp: ENSP00000388544.2:p.Lys536Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1451A>G
  hgvsp: ENSP00000336636.2:p.Lys484Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.638A>G
  hgvsp: ENSP00000476364.1:p.Lys213Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1607A>G
  hgvsp: ENSP00000380549.2:p.Lys536Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11733A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.638A>G
  hgvsp: ENSP00000476866.1:p.Lys213Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.1004A>G
  hgvsp: ENSP00000407917.2:p.Lys335Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1451A>G
  hgvsp: ENSP00000385223.1:p.Lys484Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1607A>G
  hgvsp: ENSP00000347088.2:p.Lys536Arg
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys536Arg
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/22-33700343-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700343
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700343
    reference: chr 22
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1602G>T
  hgvsp: ENST00000397394.2:c.1602G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11728G>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.633G>T
  hgvsp: ENST00000608642.1:c.633G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.999G>T
  hgvsp: ENST00000452586.2:c.999G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1446G>T
  hgvsp: ENST00000337431.2:c.1446G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1446G>T
  hgvsp: ENST00000402320.1:c.1446G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1602G>T
  hgvsp: ENST00000354992.2:c.1602G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1602G>T
  hgvsp: ENST00000437602.2:c.1602G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.633G>T
  hgvsp: ENST00000610186.1:c.633G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7127
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val534Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

22-33700346-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700346
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700346
    reference: chr 22
allele count: 82
allele frequency: 6.755754749625139e-4
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.630C>T
  hgvsp: ENST00000610186.1:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1599C>T
  hgvsp: ENST00000354992.2:c.1599C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11725C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1443C>T
  hgvsp: ENST00000402320.1:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1599C>T
  hgvsp: ENST00000397394.2:c.1599C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1443C>T
  hgvsp: ENST00000337431.2:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.630C>T
  hgvsp: ENST00000608642.1:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1599C>T
  hgvsp: ENST00000437602.2:c.1599C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.996C>T
  hgvsp: ENST00000452586.2:c.996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile533Ile
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

22-33700348-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700348
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700348
    reference: chr 22
allele count: 7
allele frequency: 5.76710771309463e-5
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1597A>G
  hgvsp: ENSP00000347088.2:p.Ile533Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11723A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.994A>G
  hgvsp: ENSP00000407917.2:p.Ile332Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1441A>G
  hgvsp: ENSP00000336636.2:p.Ile481Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1597A>G
  hgvsp: ENSP00000380549.2:p.Ile533Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.628A>G
  hgvsp: ENSP00000476866.1:p.Ile210Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.628A>G
  hgvsp: ENSP00000476364.1:p.Ile210Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1441A>G
  hgvsp: ENSP00000385223.1:p.Ile481Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1597A>G
  hgvsp: ENSP00000388544.2:p.Ile533Val
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile533Val
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: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

22-33700360-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700360
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700360
    reference: chr 22
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11711G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.616G>A
  hgvsp: ENSP00000476364.1:p.Val206Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1585G>A
  hgvsp: ENSP00000347088.2:p.Val529Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.616G>A
  hgvsp: ENSP00000476866.1:p.Val206Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1429G>A
  hgvsp: ENSP00000385223.1:p.Val477Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.982G>A
  hgvsp: ENSP00000407917.2:p.Val328Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1429G>A
  hgvsp: ENSP00000336636.2:p.Val477Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1585G>A
  hgvsp: ENSP00000380549.2:p.Val529Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1585G>A
  hgvsp: ENSP00000388544.2:p.Val529Met
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val529Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

22-33700361-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700361
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700361
    reference: chr 22
allele count: 7
allele frequency: 5.768723628691983e-5
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1584C>T
  hgvsp: ENST00000437602.2:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1428C>T
  hgvsp: ENST00000402320.1:c.1428C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1428C>T
  hgvsp: ENST00000337431.2:c.1428C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1584C>T
  hgvsp: ENST00000397394.2:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.981C>T
  hgvsp: ENST00000452586.2:c.981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1584C>T
  hgvsp: ENST00000354992.2:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.615C>T
  hgvsp: ENST00000608642.1:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11710C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.615C>T
  hgvsp: ENST00000610186.1:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn528Asn
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP

22-33700367-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700367
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700367
    reference: chr 22
allele count: 7
allele frequency: 5.769103975736797e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1578C>T
  hgvsp: ENST00000397394.2:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1578C>T
  hgvsp: ENST00000437602.2:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1578C>T
  hgvsp: ENST00000354992.2:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.609C>T
  hgvsp: ENST00000608642.1:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1422C>T
  hgvsp: ENST00000402320.1:c.1422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11704C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1422C>T
  hgvsp: ENST00000337431.2:c.1422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.975C>T
  hgvsp: ENST00000452586.2:c.975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.609C>T
  hgvsp: ENST00000610186.1:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg526Arg
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum

22-33700368-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700368
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700368
    reference: chr 22
allele count: 6
allele frequency: 4.945190801945108e-5
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.608G>A
  hgvsp: ENSP00000476866.1:p.Arg203His
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1421G>A
  hgvsp: ENSP00000385223.1:p.Arg474His
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1421G>A
  hgvsp: ENSP00000336636.2:p.Arg474His
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.608G>A
  hgvsp: ENSP00000476364.1:p.Arg203His
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1577G>A
  hgvsp: ENSP00000380549.2:p.Arg526His
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1577G>A
  hgvsp: ENSP00000347088.2:p.Arg526His
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.974G>A
  hgvsp: ENSP00000407917.2:p.Arg325His
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1577G>A
  hgvsp: ENSP00000388544.2:p.Arg526His
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11703G>A
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29876
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7126
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg526His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

22-33700369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700369
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700369
    reference: chr 22
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1576C>T
  hgvsp: ENSP00000388544.2:p.Arg526Cys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1420C>T
  hgvsp: ENSP00000385223.1:p.Arg474Cys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.607C>T
  hgvsp: ENSP00000476866.1:p.Arg203Cys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1420C>T
  hgvsp: ENSP00000336636.2:p.Arg474Cys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11702C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1576C>T
  hgvsp: ENSP00000380549.2:p.Arg526Cys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.607C>T
  hgvsp: ENSP00000476364.1:p.Arg203Cys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1576C>T
  hgvsp: ENSP00000347088.2:p.Arg526Cys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.973C>T
  hgvsp: ENSP00000407917.2:p.Arg325Cys
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg526Cys
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

22-33700379-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700379
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700379
    reference: chr 22
allele count: 2
allele frequency: 1.648804616652927e-5
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1566G>A
  hgvsp: ENST00000437602.2:c.1566G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1566G>A
  hgvsp: ENST00000397394.2:c.1566G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.597G>A
  hgvsp: ENST00000610186.1:c.597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.597G>A
  hgvsp: ENST00000608642.1:c.597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1566G>A
  hgvsp: ENST00000354992.2:c.1566G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1410G>A
  hgvsp: ENST00000337431.2:c.1410G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11692G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.963G>A
  hgvsp: ENST00000452586.2:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1410G>A
  hgvsp: ENST00000402320.1:c.1410G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val522Val
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

22-33700385-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700385
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700385
    reference: chr 22
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1560T>C
  hgvsp: ENST00000354992.2:c.1560T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.591T>C
  hgvsp: ENST00000610186.1:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1560T>C
  hgvsp: ENST00000437602.2:c.1560T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1404T>C
  hgvsp: ENST00000402320.1:c.1404T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.591T>C
  hgvsp: ENST00000608642.1:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1560T>C
  hgvsp: ENST00000397394.2:c.1560T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1404T>C
  hgvsp: ENST00000337431.2:c.1404T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.957T>C
  hgvsp: ENST00000452586.2:c.957T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11686T>C
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7528
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser520Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-33700388-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700388
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700388
    reference: chr 22
allele count: 6
allele frequency: 4.9478007025877e-5
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.588C>T
  hgvsp: ENST00000608642.1:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1557C>T
  hgvsp: ENST00000354992.2:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11683C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1557C>T
  hgvsp: ENST00000437602.2:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1401C>T
  hgvsp: ENST00000337431.2:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.954C>T
  hgvsp: ENST00000452586.2:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1557C>T
  hgvsp: ENST00000397394.2:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1401C>T
  hgvsp: ENST00000402320.1:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.588C>T
  hgvsp: ENST00000610186.1:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly519Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

22-33700389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700389
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700389
    reference: chr 22
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1400G>A
  hgvsp: ENSP00000336636.2:p.Gly467Asp
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1556G>A
  hgvsp: ENSP00000388544.2:p.Gly519Asp
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11682G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.953G>A
  hgvsp: ENSP00000407917.2:p.Gly318Asp
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1556G>A
  hgvsp: ENSP00000380549.2:p.Gly519Asp
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.587G>A
  hgvsp: ENSP00000476866.1:p.Gly196Asp
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.587G>A
  hgvsp: ENSP00000476364.1:p.Gly196Asp
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1400G>A
  hgvsp: ENSP00000385223.1:p.Gly467Asp
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1556G>A
  hgvsp: ENSP00000347088.2:p.Gly519Asp
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly519Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

22-33700392-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700392
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700392
    reference: chr 22
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.584A>G
  hgvsp: ENSP00000476866.1:p.Gln195Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1397A>G
  hgvsp: ENSP00000336636.2:p.Gln466Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1553A>G
  hgvsp: ENSP00000380549.2:p.Gln518Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1397A>G
  hgvsp: ENSP00000385223.1:p.Gln466Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1553A>G
  hgvsp: ENSP00000347088.2:p.Gln518Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1553A>G
  hgvsp: ENSP00000388544.2:p.Gln518Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.950A>G
  hgvsp: ENSP00000407917.2:p.Gln317Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11679A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.584A>G
  hgvsp: ENSP00000476364.1:p.Gln195Arg
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln518Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

22-33700393-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700393
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700393
    reference: chr 22
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1552C>A
  hgvsp: ENSP00000380549.2:p.Gln518Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.583C>A
  hgvsp: ENSP00000476364.1:p.Gln195Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1396C>A
  hgvsp: ENSP00000336636.2:p.Gln466Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11678C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1552C>A
  hgvsp: ENSP00000388544.2:p.Gln518Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1552C>A
  hgvsp: ENSP00000347088.2:p.Gln518Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.949C>A
  hgvsp: ENSP00000407917.2:p.Gln317Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1396C>A
  hgvsp: ENSP00000385223.1:p.Gln466Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.583C>A
  hgvsp: ENSP00000476866.1:p.Gln195Lys
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln518Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/22-33700396-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700396
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700396
    reference: chr 22
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1549G>T
  hgvsp: ENSP00000388544.2:p.Ala517Ser
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.946G>T
  hgvsp: ENSP00000407917.2:p.Ala316Ser
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1393G>T
  hgvsp: ENSP00000336636.2:p.Ala465Ser
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.580G>T
  hgvsp: ENSP00000476364.1:p.Ala194Ser
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.580G>T
  hgvsp: ENSP00000476866.1:p.Ala194Ser
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1549G>T
  hgvsp: ENSP00000347088.2:p.Ala517Ser
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1549G>T
  hgvsp: ENSP00000380549.2:p.Ala517Ser
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11675G>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1393G>T
  hgvsp: ENSP00000385223.1:p.Ala465Ser
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala517Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

22-33700396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700396
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700396
    reference: chr 22
allele count: 2
allele frequency: 1.650519088253256e-5
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.580G>A
  hgvsp: ENSP00000476866.1:p.Ala194Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.580G>A
  hgvsp: ENSP00000476364.1:p.Ala194Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1549G>A
  hgvsp: ENSP00000388544.2:p.Ala517Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1393G>A
  hgvsp: ENSP00000336636.2:p.Ala465Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1549G>A
  hgvsp: ENSP00000347088.2:p.Ala517Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.946G>A
  hgvsp: ENSP00000407917.2:p.Ala316Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1549G>A
  hgvsp: ENSP00000380549.2:p.Ala517Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1393G>A
  hgvsp: ENSP00000385223.1:p.Ala465Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11675G>A
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala517Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

22-33700397-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700397
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700397
    reference: chr 22
allele count: 988
allele frequency: 8.155718082910964e-3
allele num: 121142
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.579C>T
  hgvsp: ENST00000608642.1:c.579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1548C>T
  hgvsp: ENST00000397394.2:c.1548C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1548C>T
  hgvsp: ENST00000354992.2:c.1548C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.579C>T
  hgvsp: ENST00000610186.1:c.579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.945C>T
  hgvsp: ENST00000452586.2:c.945C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1392C>T
  hgvsp: ENST00000337431.2:c.1392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11674C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1548C>T
  hgvsp: ENST00000437602.2:c.1548C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1392C>T
  hgvsp: ENST00000402320.1:c.1392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21366
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 3.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 29653
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr516Tyr
num of homozygotes: 45
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

22-33700401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700401
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700401
    reference: chr 22
allele count: 2
allele frequency: 1.651991475723985e-5
allele num: 121066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.575G>A
  hgvsp: ENSP00000476364.1:p.Arg192His
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1388G>A
  hgvsp: ENSP00000336636.2:p.Arg463His
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1544G>A
  hgvsp: ENSP00000388544.2:p.Arg515His
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.941G>A
  hgvsp: ENSP00000407917.2:p.Arg314His
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1544G>A
  hgvsp: ENSP00000347088.2:p.Arg515His
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1544G>A
  hgvsp: ENSP00000380549.2:p.Arg515His
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.575G>A
  hgvsp: ENSP00000476866.1:p.Arg192His
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11670G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1388G>A
  hgvsp: ENSP00000385223.1:p.Arg463His
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49571
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg515His
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

22-33700409-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700409
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700409
    reference: chr 22
allele count: 2
allele frequency: 1.657412778652524e-5
allele num: 120670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1536G>A
  hgvsp: ENST00000437602.2:c.1536G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1380G>A
  hgvsp: ENST00000337431.2:c.1380G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.567G>A
  hgvsp: ENST00000608642.1:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11662G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1380G>A
  hgvsp: ENST00000402320.1:c.1380G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.567G>A
  hgvsp: ENST00000610186.1:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1536G>A
  hgvsp: ENST00000354992.2:c.1536G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.933G>A
  hgvsp: ENST00000452586.2:c.933G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1536G>A
  hgvsp: ENST00000397394.2:c.1536G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21043
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49099
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln512Gln
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

22-33700420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700420
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700420
    reference: chr 22
allele count: 1
allele frequency: 8.469121582709441e-6
allele num: 118076
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1525G>A
  hgvsp: ENSP00000380549.2:p.Glu509Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11651G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.922G>A
  hgvsp: ENSP00000407917.2:p.Glu308Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1525G>A
  hgvsp: ENSP00000347088.2:p.Glu509Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1369G>A
  hgvsp: ENSP00000336636.2:p.Glu457Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.556G>A
  hgvsp: ENSP00000476866.1:p.Glu186Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1525G>A
  hgvsp: ENSP00000388544.2:p.Glu509Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1369G>A
  hgvsp: ENSP00000385223.1:p.Glu457Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.556G>A
  hgvsp: ENSP00000476364.1:p.Glu186Lys
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu509Lys
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

22-33700421-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700421
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700421
    reference: chr 22
allele count: 1
allele frequency: 8.470843357164639e-6
allele num: 118052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.555C>G
  hgvsp: ENST00000608642.1:c.555C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1368C>G
  hgvsp: ENST00000402320.1:c.1368C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.555C>G
  hgvsp: ENST00000610186.1:c.555C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11650C>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.921C>G
  hgvsp: ENST00000452586.2:c.921C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1524C>G
  hgvsp: ENST00000354992.2:c.1524C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1524C>G
  hgvsp: ENST00000397394.2:c.1524C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1524C>G
  hgvsp: ENST00000437602.2:c.1524C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1368C>G
  hgvsp: ENST00000337431.2:c.1368C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala508Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

22-33700423-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700423
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700423
    reference: chr 22
allele count: 1
allele frequency: 8.519338899301415e-6
allele num: 117380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.553G>A
  hgvsp: ENSP00000476866.1:p.Ala185Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1366G>A
  hgvsp: ENSP00000336636.2:p.Ala456Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.919G>A
  hgvsp: ENSP00000407917.2:p.Ala307Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1366G>A
  hgvsp: ENSP00000385223.1:p.Ala456Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1522G>A
  hgvsp: ENSP00000388544.2:p.Ala508Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1522G>A
  hgvsp: ENSP00000347088.2:p.Ala508Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1522G>A
  hgvsp: ENSP00000380549.2:p.Ala508Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11648G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.553G>A
  hgvsp: ENSP00000476364.1:p.Ala185Thr
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3671
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala508Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

22-33700436-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700436
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700436
    reference: chr 22
allele count: 1
allele frequency: 9.081002542680711e-6
allele num: 110120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1353C>A
  hgvsp: ENST00000337431.2:c.1353C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11635C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1353C>A
  hgvsp: ENST00000402320.1:c.1353C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1509C>A
  hgvsp: ENST00000437602.2:c.1509C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1509C>A
  hgvsp: ENST00000397394.2:c.1509C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1509C>A
  hgvsp: ENST00000354992.2:c.1509C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.540C>A
  hgvsp: ENST00000610186.1:c.540C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.906C>A
  hgvsp: ENST00000452586.2:c.906C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.540C>A
  hgvsp: ENST00000608642.1:c.540C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu503Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

22-33700439-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700439
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700439
    reference: chr 22
allele count: 1
allele frequency: 9.256173867969935e-6
allele num: 108036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1350C>T
  hgvsp: ENST00000337431.2:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.537C>T
  hgvsp: ENST00000610186.1:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.903C>T
  hgvsp: ENST00000452586.2:c.903C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1506C>T
  hgvsp: ENST00000437602.2:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1506C>T
  hgvsp: ENST00000397394.2:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1350C>T
  hgvsp: ENST00000402320.1:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1506C>T
  hgvsp: ENST00000354992.2:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.537C>T
  hgvsp: ENST00000608642.1:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11632C>T
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala502Ala
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS

22-33700448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700448
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700448
    reference: chr 22
allele count: 1
allele frequency: 9.8405825624877e-6
allele num: 101620
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1497C>T
  hgvsp: ENST00000354992.2:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.528C>T
  hgvsp: ENST00000608642.1:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1341C>T
  hgvsp: ENST00000402320.1:c.1341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1497C>T
  hgvsp: ENST00000397394.2:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1497C>T
  hgvsp: ENST00000437602.2:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.894C>T
  hgvsp: ENST00000452586.2:c.894C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11623C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.528C>T
  hgvsp: ENST00000610186.1:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1341C>T
  hgvsp: ENST00000337431.2:c.1341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19618
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile499Ile
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

22-33700448-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700448
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700448
    reference: chr 22
allele count: 1
allele frequency: 9.8405825624877e-6
allele num: 101620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.894C>G
  hgvsp: ENSP00000407917.2:p.Ile298Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11623C>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1497C>G
  hgvsp: ENSP00000388544.2:p.Ile499Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1341C>G
  hgvsp: ENSP00000336636.2:p.Ile447Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1341C>G
  hgvsp: ENSP00000385223.1:p.Ile447Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.528C>G
  hgvsp: ENSP00000476364.1:p.Ile176Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1497C>G
  hgvsp: ENSP00000347088.2:p.Ile499Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1497C>G
  hgvsp: ENSP00000380549.2:p.Ile499Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.528C>G
  hgvsp: ENSP00000476866.1:p.Ile176Met
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile499Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

22-33700452-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700452
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700452
    reference: chr 22
allele count: 1
allele frequency: 1.019388774490815e-5
allele num: 98098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.524C>T
  hgvsp: ENSP00000476866.1:p.Pro175Leu
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1337C>T
  hgvsp: ENSP00000385223.1:p.Pro446Leu
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1493C>T
  hgvsp: ENSP00000380549.2:p.Pro498Leu
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.524C>T
  hgvsp: ENSP00000476364.1:p.Pro175Leu
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1337C>T
  hgvsp: ENSP00000336636.2:p.Pro446Leu
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11619C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.890C>T
  hgvsp: ENSP00000407917.2:p.Pro297Leu
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1493C>T
  hgvsp: ENSP00000388544.2:p.Pro498Leu
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1493C>T
  hgvsp: ENSP00000347088.2:p.Pro498Leu
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12845
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro498Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

22-33700483-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700483
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700483
    reference: chr 22
allele count: 2
allele frequency: 3.036375781866764e-5
allele num: 65868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11588C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.493C>T
  hgvsp: ENST00000610186.1:c.493C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1306C>T
  hgvsp: ENST00000337431.2:c.1306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1306C>T
  hgvsp: ENST00000402320.1:c.1306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1462C>T
  hgvsp: ENST00000397394.2:c.1462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1462C>T
  hgvsp: ENST00000437602.2:c.1462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.859C>T
  hgvsp: ENST00000452586.2:c.859C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.493C>T
  hgvsp: ENST00000608642.1:c.493C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1462C>T
  hgvsp: ENST00000354992.2:c.1462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20682
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21188
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6809
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu488Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

22-33700492-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700492
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700492
    reference: chr 22
allele count: 1
allele frequency: 1.796880615251923e-5
allele num: 55652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1453C>T
  hgvsp: ENSP00000380549.2:p.Leu485Phe
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1453C>T
  hgvsp: ENSP00000347088.2:p.Leu485Phe
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.484C>T
  hgvsp: ENSP00000476364.1:p.Leu162Phe
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.850C>T
  hgvsp: ENSP00000407917.2:p.Leu284Phe
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1297C>T
  hgvsp: ENSP00000385223.1:p.Leu433Phe
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11579C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.484C>T
  hgvsp: ENSP00000476866.1:p.Leu162Phe
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1297C>T
  hgvsp: ENSP00000336636.2:p.Leu433Phe
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1453C>T
  hgvsp: ENSP00000388544.2:p.Leu485Phe
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19516
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9966
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10831
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4998
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu485Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

22-33700505-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700505
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700506
    reference: chr 22
allele count: 1
allele frequency: 2.407318247472316e-5
allele num: 41540
alternate allele: AG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1452-13dupC
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.483-13dupC
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1452-13dupC
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.483-13dupC
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.849-13dupC
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1296-13dupC
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1452-13dupC
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11565dupC
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1296-13dupC
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15665
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19347
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD

22-33700513-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700513
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700513
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 30988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.849-20A>C
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.483-20A>C
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1452-20A>C
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11558A>C
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1296-20A>C
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1452-20A>C
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1296-20A>C
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.483-20A>C
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1452-20A>C
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23316
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

22-33700518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700518
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700518
    reference: chr 22
allele count: 1
allele frequency: 3.912363067292644e-5
allele num: 25560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1452-25G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1452-25G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1452-25G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1296-25G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.483-25G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.849-25G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1296-25G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.483-25G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11553G>A
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25714
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18513
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3458
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16815
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

22-33700519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700519
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700519
    reference: chr 22
allele count: 6
allele frequency: 2.625590757920532e-4
allele num: 22852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1296-26C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.483-26C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.483-26C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11552C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1452-26C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1452-26C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1296-26C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1452-26C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.849-26C>T
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8456
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26395
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18479
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3703
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27137
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

22-33700520-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700520
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700520
    reference: chr 22
allele count: 14
allele frequency: 6.089074460681977e-4
allele num: 22992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.483-27G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1296-27G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1452-27G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1296-27G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1452-27G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.483-27G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1452-27G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11551G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.849-27G>A
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26756
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8263
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18388
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 3.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

22-33700521-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700521
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700521
    reference: chr 22
allele count: 496
allele frequency: 2.217255252570407e-2
allele num: 22370
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1452-28C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1296-28C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.483-28C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1296-28C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1452-28C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.483-28C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11550C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1452-28C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.849-28C>T
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 18363
  bin: 7.5e0
  variant carriers: 461
genotype depth: GenotypeDepth
  all individuals: 26961
  bin: 2.5e0
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 1.25e1
  variant carriers: 217
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 2.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 1.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 1.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.25e1
  variant carriers: 27
num of homozygotes: 30
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

22-33700521-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700521
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700521
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 22370
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.849-28C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1296-28C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.483-28C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1452-28C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1452-28C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1452-28C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.483-28C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11550C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1296-28C>A
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26961
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18363
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14731
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

22-33700529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700529
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700529
    reference: chr 22
allele count: 1
allele frequency: 5.264820469621986e-5
allele num: 18994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1452-36C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.483-36C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.849-36C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1452-36C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1452-36C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11542C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1296-36C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.483-36C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1296-36C>T
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS

22-33700538-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700538
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700538
    reference: chr 22
allele count: 3
allele frequency: 1.835985312117503e-4
allele num: 16340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.483-45A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1452-45A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1452-45A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.849-45A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1452-45A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.483-45A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1296-45A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1296-45A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11533A>G
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18511
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5948
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-33700539-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33700539
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33700539
    reference: chr 22
allele count: 10
allele frequency: 6.50110518788194e-4
allele num: 15382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1296-46C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1452-46C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1452-46C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1296-46C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.483-46C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.849-46C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1452-46C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.483-46C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11532C>T
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27653
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18618
  bin: 7.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 4
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

22-33712021-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712021
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712021
    reference: chr 22
allele count: 1
allele frequency: 9.569377990430622e-6
allele num: 104500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.482+50A>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1295+50A>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.482+50A>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+50A>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.848+50A>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1451+50A>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1451+50A>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1295+50A>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1451+50A>T
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14168
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5085
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6947
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8849
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

22-33712021-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712021
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712021
    reference: chr 22
allele count: 1
allele frequency: 9.569377990430622e-6
allele num: 104500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1295+50A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+50A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.848+50A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1451+50A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1451+50A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.482+50A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.482+50A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1295+50A>G
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1451+50A>G
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16615
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6622
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3937
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6947
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/22-33712030-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712030
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712030
    reference: chr 22
allele count: 2
allele frequency: 1.908542636842507e-5
allele num: 104792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.848+41G>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.482+41G>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1295+41G>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1451+41G>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1451+41G>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+41G>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1451+41G>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1295+41G>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.482+41G>T
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16082
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12966
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

22-33712030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712030
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712030
    reference: chr 22
allele count: 2
allele frequency: 1.908542636842507e-5
allele num: 104792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1451+41G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.482+41G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.482+41G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1295+41G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1295+41G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1451+41G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.848+41G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+41G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1451+41G>A
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16082
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3987
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14877
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

22-33712031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712031
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712031
    reference: chr 22
allele count: 4
allele frequency: 3.80191996958464e-5
allele num: 105210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.848+40C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1295+40C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+40C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1451+40C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.482+40C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1451+40C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1451+40C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.482+40C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1295+40C>T
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14753
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15588
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6569
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

22-33712031-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712031
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712031
    reference: chr 22
allele count: 1
allele frequency: 9.504799923961601e-6
allele num: 105210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1451+40C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1295+40C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.482+40C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+40C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1451+40C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1295+40C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.848+40C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1451+40C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.482+40C>A
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6569
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

22-33712032-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712032
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712032
    reference: chr 22
allele count: 11
allele frequency: 1.046184280605646e-4
allele num: 105144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.848+39G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.482+39G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1451+39G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1295+39G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1295+39G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1451+39G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1451+39G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.482+39G>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+39G>A
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15309
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15514
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8348
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

22-33712033-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712033
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712033
    reference: chr 22
allele count: 229
allele frequency: 2.169546763680461e-3
allele num: 105552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1451+38C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.482+38C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1295+38C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1451+38C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1295+38C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+38C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.482+38C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.848+38C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1451+38C>T
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 17415
  bin: 2.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14448
  bin: 1.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 1.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5089
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 2
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS

22-33712045-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712045
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712045
    reference: chr 22
allele count: 3
allele frequency: 2.779991474692811e-5
allele num: 107914
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1451+26C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.482+26C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1451+26C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.482+26C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1295+26C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1295+26C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1451+26C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+26C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.848+26C>T
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23697
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

22-33712048-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712048
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712048
    reference: chr 22
allele count: 3
allele frequency: 2.763346965845032e-5
allele num: 108564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+23C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1295+23C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1451+23C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1451+23C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1295+23C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.482+23C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1451+23C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.848+23C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.482+23C>T
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24446
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

22-33712048-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712048
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712048
    reference: chr 22
allele count: 1
allele frequency: 9.211156552816772e-6
allele num: 108564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1295+23C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+23C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1451+23C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1451+23C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1451+23C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.482+23C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.848+23C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1295+23C>A
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.482+23C>A
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7479
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

22-33712049-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712049
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712049
    reference: chr 22
allele count: 3
allele frequency: 2.77105540263435e-5
allele num: 108262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1451+22A>C
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1451+22A>C
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+22A>C
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1295+22A>C
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1451+22A>C
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1295+22A>C
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.482+22A>C
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.482+22A>C
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.848+22A>C
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3418
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

22-33712060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712060
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712060
    reference: chr 22
allele count: 7
allele frequency: 6.278252134605726e-5
allele num: 111496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1451+11C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.482+11C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1451+11C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1451+11C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1295+11C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.482+11C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.482+11C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.848+11C>T
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1295+11C>T
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9479
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27915
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5759
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

22-33712078-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712078
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712078
    reference: chr 22
allele count: 1
allele frequency: 8.621878879845495e-6
allele num: 115984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.475A>G
  hgvsp: ENSP00000476415.1:p.Met159Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1288A>G
  hgvsp: ENSP00000385223.1:p.Met430Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1444A>G
  hgvsp: ENSP00000388544.2:p.Met482Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1288A>G
  hgvsp: ENSP00000336636.2:p.Met430Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.841A>G
  hgvsp: ENSP00000407917.2:p.Met281Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1444A>G
  hgvsp: ENSP00000347088.2:p.Met482Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1444A>G
  hgvsp: ENSP00000380549.2:p.Met482Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.475A>G
  hgvsp: ENSP00000476866.1:p.Met159Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.475A>G
  hgvsp: ENSP00000476364.1:p.Met159Val
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met482Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

22-33712082-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712082
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712082
    reference: chr 22
allele count: 2
allele frequency: 1.715148188803513e-5
allele num: 116608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.837G>A
  hgvsp: ENST00000452586.2:c.837G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1440G>A
  hgvsp: ENST00000437602.2:c.1440G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.471G>A
  hgvsp: ENST00000610186.1:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1440G>A
  hgvsp: ENST00000397394.2:c.1440G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.471G>A
  hgvsp: ENST00000608642.1:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1440G>A
  hgvsp: ENST00000354992.2:c.1440G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1284G>A
  hgvsp: ENST00000337431.2:c.1284G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.471G>A
  hgvsp: ENST00000609799.1:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1284G>A
  hgvsp: ENST00000402320.1:c.1284G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32397
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu480Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

22-33712090-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712090
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712090
    reference: chr 22
allele count: 1
allele frequency: 8.496321092966746e-6
allele num: 117698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.463G>A
  hgvsp: ENSP00000476415.1:p.Ala155Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1432G>A
  hgvsp: ENSP00000388544.2:p.Ala478Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.463G>A
  hgvsp: ENSP00000476866.1:p.Ala155Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1432G>A
  hgvsp: ENSP00000380549.2:p.Ala478Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1432G>A
  hgvsp: ENSP00000347088.2:p.Ala478Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1276G>A
  hgvsp: ENSP00000336636.2:p.Ala426Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.829G>A
  hgvsp: ENSP00000407917.2:p.Ala277Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1276G>A
  hgvsp: ENSP00000385223.1:p.Ala426Thr
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.463G>A
  hgvsp: ENSP00000476364.1:p.Ala155Thr
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala478Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

22-33712096-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712096
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712096
    reference: chr 22
allele count: 1
allele frequency: 8.422045546422314e-6
allele num: 118736
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1270C>G
  hgvsp: ENSP00000385223.1:p.Leu424Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1426C>G
  hgvsp: ENSP00000347088.2:p.Leu476Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1426C>G
  hgvsp: ENSP00000380549.2:p.Leu476Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.457C>G
  hgvsp: ENSP00000476415.1:p.Leu153Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.823C>G
  hgvsp: ENSP00000407917.2:p.Leu275Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.457C>G
  hgvsp: ENSP00000476866.1:p.Leu153Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1426C>G
  hgvsp: ENSP00000388544.2:p.Leu476Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1270C>G
  hgvsp: ENSP00000336636.2:p.Leu424Val
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.457C>G
  hgvsp: ENSP00000476364.1:p.Leu153Val
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu476Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

22-33712096-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712096
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712096
    reference: chr 22
allele count: 3
allele frequency: 2.526613663926695e-5
allele num: 118736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.457C>A
  hgvsp: ENSP00000476364.1:p.Leu153Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1426C>A
  hgvsp: ENSP00000388544.2:p.Leu476Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.457C>A
  hgvsp: ENSP00000476415.1:p.Leu153Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1270C>A
  hgvsp: ENSP00000336636.2:p.Leu424Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.823C>A
  hgvsp: ENSP00000407917.2:p.Leu275Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1426C>A
  hgvsp: ENSP00000380549.2:p.Leu476Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1270C>A
  hgvsp: ENSP00000385223.1:p.Leu424Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.457C>A
  hgvsp: ENSP00000476866.1:p.Leu153Met
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1426C>A
  hgvsp: ENSP00000347088.2:p.Leu476Met
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42695
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu476Met
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-33712102-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712102
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712102
    reference: chr 22
allele count: 105
allele frequency: 8.814788696922379e-4
allele num: 119118
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1420G>A
  hgvsp: ENSP00000347088.2:p.Val474Ile
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1420G>A
  hgvsp: ENSP00000388544.2:p.Val474Ile
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.451G>A
  hgvsp: ENSP00000476364.1:p.Val151Ile
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1420G>A
  hgvsp: ENSP00000380549.2:p.Val474Ile
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.451G>A
  hgvsp: ENSP00000476415.1:p.Val151Ile
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1264G>A
  hgvsp: ENSP00000385223.1:p.Val422Ile
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.817G>A
  hgvsp: ENSP00000407917.2:p.Val273Ile
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.451G>A
  hgvsp: ENSP00000476866.1:p.Val151Ile
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1264G>A
  hgvsp: ENSP00000336636.2:p.Val422Ile
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33018
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14436
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val474Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

22-33712103-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712103
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712103
    reference: chr 22
allele count: 1
allele frequency: 8.389543273264204e-6
allele num: 119196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1419C>A
  hgvsp: ENSP00000380549.2:p.Asp473Glu
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1263C>A
  hgvsp: ENSP00000336636.2:p.Asp421Glu
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1263C>A
  hgvsp: ENSP00000385223.1:p.Asp421Glu
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.450C>A
  hgvsp: ENSP00000476364.1:p.Asp150Glu
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1419C>A
  hgvsp: ENSP00000388544.2:p.Asp473Glu
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.450C>A
  hgvsp: ENSP00000476415.1:p.Asp150Glu
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.450C>A
  hgvsp: ENSP00000476866.1:p.Asp150Glu
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1419C>A
  hgvsp: ENSP00000347088.2:p.Asp473Glu
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.816C>A
  hgvsp: ENSP00000407917.2:p.Asp272Glu
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3883
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp473Glu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-33712106-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712106
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712106
    reference: chr 22
allele count: 3
allele frequency: 2.510628326582533e-5
allele num: 119492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.813G>A
  hgvsp: ENST00000452586.2:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1260G>A
  hgvsp: ENST00000337431.2:c.1260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1416G>A
  hgvsp: ENST00000397394.2:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1416G>A
  hgvsp: ENST00000437602.2:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1416G>A
  hgvsp: ENST00000354992.2:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.447G>A
  hgvsp: ENST00000609799.1:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.447G>A
  hgvsp: ENST00000608642.1:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.447G>A
  hgvsp: ENST00000610186.1:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1260G>A
  hgvsp: ENST00000402320.1:c.1260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43818
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr472Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-33712107-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712107
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712107
    reference: chr 22
allele count: 2
allele frequency: 1.671569938486226e-5
allele num: 119648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1259C>G
  hgvsp: ENSP00000336636.2:p.Thr420Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1415C>G
  hgvsp: ENSP00000388544.2:p.Thr472Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1415C>G
  hgvsp: ENSP00000380549.2:p.Thr472Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.446C>G
  hgvsp: ENSP00000476364.1:p.Thr149Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.446C>G
  hgvsp: ENSP00000476415.1:p.Thr149Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1415C>G
  hgvsp: ENSP00000347088.2:p.Thr472Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.812C>G
  hgvsp: ENSP00000407917.2:p.Thr271Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1259C>G
  hgvsp: ENSP00000385223.1:p.Thr420Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.446C>G
  hgvsp: ENSP00000476866.1:p.Thr149Arg
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33307
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr472Arg
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-33712109-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712109
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712109
    reference: chr 22
allele count: 5
allele frequency: 4.173065366895907e-5
allele num: 119816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1257C>A
  hgvsp: ENSP00000336636.2:p.Ser419Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.444C>A
  hgvsp: ENSP00000476415.1:p.Ser148Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1413C>A
  hgvsp: ENSP00000380549.2:p.Ser471Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1413C>A
  hgvsp: ENSP00000347088.2:p.Ser471Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.444C>A
  hgvsp: ENSP00000476866.1:p.Ser148Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.810C>A
  hgvsp: ENSP00000407917.2:p.Ser270Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1413C>A
  hgvsp: ENSP00000388544.2:p.Ser471Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1257C>A
  hgvsp: ENSP00000385223.1:p.Ser419Arg
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.444C>A
  hgvsp: ENSP00000476364.1:p.Ser148Arg
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33413
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15094
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3887
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser471Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/22-33712124-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712124
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712124
    reference: chr 22
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1242G>T
  hgvsp: ENSP00000336636.2:p.Glu414Asp
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.429G>T
  hgvsp: ENSP00000476364.1:p.Glu143Asp
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1242G>T
  hgvsp: ENSP00000385223.1:p.Glu414Asp
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.429G>T
  hgvsp: ENSP00000476866.1:p.Glu143Asp
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1398G>T
  hgvsp: ENSP00000380549.2:p.Glu466Asp
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1398G>T
  hgvsp: ENSP00000347088.2:p.Glu466Asp
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.429G>T
  hgvsp: ENSP00000476415.1:p.Glu143Asp
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.795G>T
  hgvsp: ENSP00000407917.2:p.Glu265Asp
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1398G>T
  hgvsp: ENSP00000388544.2:p.Glu466Asp
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu466Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

22-33712126-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712126
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712126
    reference: chr 22
allele count: 2
allele frequency: 1.657522666622466e-5
allele num: 120662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1396G>C
  hgvsp: ENSP00000388544.2:p.Glu466Gln
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1396G>C
  hgvsp: ENSP00000347088.2:p.Glu466Gln
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1240G>C
  hgvsp: ENSP00000336636.2:p.Glu414Gln
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.427G>C
  hgvsp: ENSP00000476364.1:p.Glu143Gln
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.427G>C
  hgvsp: ENSP00000476415.1:p.Glu143Gln
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1396G>C
  hgvsp: ENSP00000380549.2:p.Glu466Gln
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1240G>C
  hgvsp: ENSP00000385223.1:p.Glu414Gln
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.427G>C
  hgvsp: ENSP00000476866.1:p.Glu143Gln
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.793G>C
  hgvsp: ENSP00000407917.2:p.Glu265Gln
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu466Gln
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

22-33712128-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712128
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712128
    reference: chr 22
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1238A>G
  hgvsp: ENSP00000385223.1:p.Tyr413Cys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.425A>G
  hgvsp: ENSP00000476364.1:p.Tyr142Cys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1394A>G
  hgvsp: ENSP00000380549.2:p.Tyr465Cys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.791A>G
  hgvsp: ENSP00000407917.2:p.Tyr264Cys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.425A>G
  hgvsp: ENSP00000476866.1:p.Tyr142Cys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.425A>G
  hgvsp: ENSP00000476415.1:p.Tyr142Cys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1394A>G
  hgvsp: ENSP00000347088.2:p.Tyr465Cys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1394A>G
  hgvsp: ENSP00000388544.2:p.Tyr465Cys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1238A>G
  hgvsp: ENSP00000336636.2:p.Tyr413Cys
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr465Cys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

22-33712130-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712130
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712130
    reference: chr 22
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.423G>A
  hgvsp: ENST00000609799.1:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1236G>A
  hgvsp: ENST00000402320.1:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1236G>A
  hgvsp: ENST00000337431.2:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1392G>A
  hgvsp: ENST00000354992.2:c.1392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1392G>A
  hgvsp: ENST00000437602.2:c.1392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.789G>A
  hgvsp: ENST00000452586.2:c.789G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.423G>A
  hgvsp: ENST00000610186.1:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1392G>A
  hgvsp: ENST00000397394.2:c.1392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.423G>A
  hgvsp: ENST00000608642.1:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu464Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

22-33712132-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712132
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712132
    reference: chr 22
allele count: 1
allele frequency: 8.27787159365584e-6
allele num: 120804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1390G>A
  hgvsp: ENSP00000380549.2:p.Glu464Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1234G>A
  hgvsp: ENSP00000385223.1:p.Glu412Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.787G>A
  hgvsp: ENSP00000407917.2:p.Glu263Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.421G>A
  hgvsp: ENSP00000476866.1:p.Glu141Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1390G>A
  hgvsp: ENSP00000347088.2:p.Glu464Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1234G>A
  hgvsp: ENSP00000336636.2:p.Glu412Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1390G>A
  hgvsp: ENSP00000388544.2:p.Glu464Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.421G>A
  hgvsp: ENSP00000476415.1:p.Glu141Lys
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.421G>A
  hgvsp: ENSP00000476364.1:p.Glu141Lys
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu464Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

22-33712133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33712133
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 33712133
    reference: chr 22
allele count: 3
allele frequency: 2.482580559739164e-5
allele num: 120842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000385223
  ensembl transcript: ENST00000402320
  gene symbol: LARGE
  hgvsc: ENST00000402320.1:c.1233C>T
  hgvsp: ENST00000402320.1:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476415
  ensembl transcript: ENST00000609799
  gene symbol: LARGE
  hgvsc: ENST00000609799.1:c.420C>T
  hgvsp: ENST00000609799.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476364
  ensembl transcript: ENST00000610186
  gene symbol: LARGE
  hgvsc: ENST00000610186.1:c.420C>T
  hgvsp: ENST00000610186.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000388544
  ensembl transcript: ENST00000437602
  gene symbol: LARGE
  hgvsc: ENST00000437602.2:c.1389C>T
  hgvsp: ENST00000437602.2:c.1389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000476866
  ensembl transcript: ENST00000608642
  gene symbol: LARGE
  hgvsc: ENST00000608642.1:c.420C>T
  hgvsp: ENST00000608642.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000347088
  ensembl transcript: ENST00000354992
  gene symbol: LARGE
  hgvsc: ENST00000354992.2:c.1389C>T
  hgvsp: ENST00000354992.2:c.1389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000336636
  ensembl transcript: ENST00000337431
  gene symbol: LARGE
  hgvsc: ENST00000337431.2:c.1233C>T
  hgvsp: ENST00000337431.2:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000380549
  ensembl transcript: ENST00000397394
  gene symbol: LARGE
  hgvsc: ENST00000397394.2:c.1389C>T
  hgvsp: ENST00000397394.2:c.1389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133424
  ensembl protein: ENSP00000407917
  ensembl transcript: ENST00000452586
  gene symbol: LARGE
  hgvsc: ENST00000452586.2:c.786C>T
  hgvsp: ENST00000452586.2:c.786C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6511
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr463Tyr
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1501
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49375
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7132
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 183
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.024e0

QD
type: SiteQuality
SIO_000300: 1.261e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.705e0

FS
type: SiteQuality
SIO_000300: 3.455e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.586837e6

MQ
type: SiteQuality
SIO_000300: 5.882e1

GenotypeQuality
all individuals: 549
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7129
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49372
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1259
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 2.461e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

DP
type: SiteQuality
SIO_000300: 1.586795e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.507e1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

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

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

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

GenotypeQuality
all individuals: 508
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 183
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49368
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1499
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

DP
type: SiteQuality
SIO_000300: 1.586703e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.654e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

FS
type: SiteQuality
SIO_000300: 5.143e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.458e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

QD
type: SiteQuality
SIO_000300: 9.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
all individuals: 1254
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7114
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 605
bin: 9.75e1
variant carriers: 81

GenotypeQuality
all individuals: 1492
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 44
allele frequency: 5.089058524173028e-3
allele num: 8646
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

South Asian
type: Population
allele count: 35
allele frequency: 2.119670542635659e-3
allele num: 16512
num of homozygotes: 1

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

QD
type: SiteQuality
SIO_000300: 1.172e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

FS
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.863e0

DP
type: SiteQuality
SIO_000300: 1.594716e6

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1495
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 9.75e1
variant carriers: 7

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

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

GenotypeQuality
all individuals: 49413
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 502
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 152
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7126
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.494454103963068e-5
allele num: 66716
num of homozygotes: 0

East Asian
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allele frequency: 2.313208420078649e-4
allele num: 8646
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
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MQRankSum
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SIO_000300: -8.599999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
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SIO_000300: 1.586805e6

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.239e0

BaseQRankSum
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SIO_000300: -3.747e0

QD
type: SiteQuality
SIO_000300: 1.052e1

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

MQRankSum
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SIO_000300: -1.98e-1

DP
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SIO_000300: 1.585879e6

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

FS
type: SiteQuality
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MQ
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SIO_000300: 5.994e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

ClippingRankSum
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SIO_000300: -1.0e-2

QD
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SIO_000300: 1.401e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 6
allele frequency: 8.99685110211426e-5
allele num: 66690
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-1

BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.209e1

MQRankSum
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SIO_000300: -1.32e-1

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 6
allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.6e-3

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

BaseQRankSum
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SIO_000300: -3.687e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.498725216713158e-5
allele num: 66678
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

FS
type: SiteQuality
SIO_000300: 2.257e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
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SIO_000300: 1.48e0

QD
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
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European (Non-Finnish)
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allele frequency: 7.502550867294881e-5
allele num: 66644
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African
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Other
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European (Finnish)
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 4.397e0

VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.58465e6

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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East Asian
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allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
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SIO_000300: -2.206e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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FS
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QD
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ClippingRankSum
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SIO_000300: -1.579e0

DP
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VQSLOD
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SIO_000300: -4.349e-1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.48e-1

QD
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.583719e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.68e0

FS
type: SiteQuality
SIO_000300: 3.979e0

ClippingRankSum
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SIO_000300: -1.277e0

DP
type: SiteQuality
SIO_000300: 1.58342e6

VQSLOD
type: SiteQuality
SIO_000300: 3.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.495e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

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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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

FS
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.499e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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num of homozygotes: 0

European (Finnish)
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African
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allele frequency: 8.821263482280431e-2
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Latino
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allele count: 51
allele frequency: 4.412528119051739e-3
allele num: 11558
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European (Non-Finnish)
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allele count: 17
allele frequency: 2.552782532960928e-4
allele num: 66594
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Other
type: Population
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allele num: 906
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East Asian
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allele count: 3
allele frequency: 3.477051460361613e-4
allele num: 8628
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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FS
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MQ
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DP
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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European (Finnish)
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Latino
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African
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East Asian
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allele frequency: 1.160092807424594e-4
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European (Non-Finnish)
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MQ
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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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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Other
type: Population
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African
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South Asian
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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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VQSLOD
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QD
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ClippingRankSum
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MQRankSum
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SIO_000300: 2.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.216e0

DP
type: SiteQuality
SIO_000300: 1.569025e6

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.536759282026063e-5
allele num: 65072
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.146e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -7.0e-4

VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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SIO_000300: -8.52e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65060
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.191950464396285e-5
allele num: 16150
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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QD
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ReadPosRankSum
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SIO_000300: 7.18e-1

BaseQRankSum
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SIO_000300: -4.191e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

FS
type: SiteQuality
SIO_000300: 2.6185e1

DP
type: SiteQuality
SIO_000300: 1.524778e6

VQSLOD
type: SiteQuality
SIO_000300: -4.17e0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.000200040008002e-4
allele num: 9998
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.486e1

DP
type: SiteQuality
SIO_000300: 1.513231e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

MQRankSum
type: SiteQuality
SIO_000300: -1.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.649675014022238e-5
allele num: 60618
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5772
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15460
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.383865e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.824e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e-1

QD
type: SiteQuality
SIO_000300: 1.023e1

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

Latino
type: Population
allele count: 1
allele frequency: 9.895111814763506e-5
allele num: 10106
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59458
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -3.411e0

FS
type: SiteQuality
SIO_000300: 0.0e0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.790446179187854e-5
allele num: 55852
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5256
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.907e1

MQRankSum
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5256
num of homozygotes: 0

East Asian
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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: 8766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.790446179187854e-5
allele num: 55852
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6688
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8792
num of homozygotes: 0

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

Other
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allele count: 0
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allele num: 730
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.856941246378965e-5
allele num: 53852
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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FS
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 8.06e0

DP
type: SiteQuality
SIO_000300: 1.168205e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
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GenotypeQuality
all individuals: 104
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5184
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.744591765526867e-4
allele num: 11464
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.743e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.21112e5

QD
type: SiteQuality
SIO_000300: 1.069e1

GenotypeQuality
all individuals: 150
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 656
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5222
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.59140610013428e-5
allele num: 10426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

DP
type: SiteQuality
SIO_000300: 6.37796e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.024e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.071e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.34e-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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GenotypeQuality
all individuals: 124
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GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8842
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.443792766373412e-4
allele num: 4092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.78e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.791e0

QD
type: SiteQuality
SIO_000300: 9.65e0

MQ
type: SiteQuality
SIO_000300: 5.418e1

DP
type: SiteQuality
SIO_000300: 5.20875e5

FS
type: SiteQuality
SIO_000300: 3.358e0

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

GenotypeQuality
all individuals: 109
bin: 7.75e1
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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variant carriers: 0

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: 1482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15632
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.91e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.671e1

VQSLOD
type: SiteQuality
SIO_000300: 4.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 4.4594e5

GenotypeQuality
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bin: 3.25e1
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
all individuals: 1486
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GenotypeQuality
all individuals: 103
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.99105002397315e-5
allele num: 12514
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.197e0

DP
type: SiteQuality
SIO_000300: 4.0579e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.984e0

VQSLOD
type: SiteQuality
SIO_000300: -1.231e0

QD
type: SiteQuality
SIO_000300: 1.753e1

GenotypeQuality
all individuals: 1112
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 5.473453749315818e-4
allele num: 10962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 934
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 962
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.336e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.644e0

DP
type: SiteQuality
SIO_000300: 3.90816e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.23e0

QD
type: SiteQuality
SIO_000300: 1.043e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.69e-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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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.706449221645663e-4
allele num: 2698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 5.443658138268917e-4
allele num: 11022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 7.276507276507277e-3
allele num: 962
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6654
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

FS
type: SiteQuality
SIO_000300: 8.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.55e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.87615e5

GenotypeQuality
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bin: 4.25e1
variant carriers: 7

GenotypeQuality
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bin: 5.25e1
variant carriers: 26

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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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: 2.25e1
variant carriers: 44

GenotypeQuality
all individuals: 681
bin: 9.75e1
variant carriers: 538

GenotypeQuality
all individuals: 90
bin: 7.25e1
variant carriers: 11

Latino
type: Population
allele count: 18
allele frequency: 1.939655172413793e-2
allele num: 928
num of homozygotes: 0

African
type: Population
allele count: 474
allele frequency: 1.760772659732541e-1
allele num: 2692
num of homozygotes: 30

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.061849357011635e-4
allele num: 6532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.87336080929187e-4
allele num: 10676
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.98e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.05e0

DP
type: SiteQuality
SIO_000300: 3.82275e5

MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.629e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 88
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GenotypeQuality
all individuals: 139
bin: 4.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 910
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2692
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10676
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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SIO_000300: 5.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
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SIO_000300: 3.82275e5

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

QD
type: SiteQuality
SIO_000300: 1.629e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.98e-2

FS
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8936
num of homozygotes: 0

Other
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allele frequency: 5.813953488372093e-3
allele num: 172
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.24e-1

MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -6.02e-2

QD
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 3

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

East Asian
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allele frequency: 1.587301587301587e-3
allele num: 630
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.635740643120717e-4
allele num: 7588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5170
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.32817e5

QD
type: SiteQuality
SIO_000300: 1.09e1

InbreedingCoeff
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SIO_000300: -6.569999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 5.747126436781609e-3
allele num: 174
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4840
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1938
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.258741258741259e-3
allele num: 7150
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.109e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.72e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.249e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.703867779860283e-5
allele num: 58690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.986e0

MQRankSum
type: SiteQuality
SIO_000300: -1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.312e0

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.799e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.196354e6

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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bin: 2.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4710
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.063603488619443e-4
allele num: 9402
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58690
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.986e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.312e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

ReadPosRankSum
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SIO_000300: 1.24e0

DP
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

VQSLOD
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MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

QD
type: SiteQuality
SIO_000300: 5.84e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7428
num of homozygotes: 0

Latino
type: Population
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allele frequency: 1.06224771616741e-4
allele num: 9414
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 14458
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.699639676388606e-5
allele num: 58836
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.1776e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 1.089561996077577e-4
allele num: 9178
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.699639676388606e-5
allele num: 58836
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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QD
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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MQ
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
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allele num: 752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.894649751792609e-5
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East Asian
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.08078447312265e-5
allele num: 59046
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

GenotypeQuality
all individuals: 3939
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8309
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5882
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2932
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16800
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3937
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 529
bin: 7.5e0
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.08483402039488e-4
allele num: 9218
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.313e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

DP
type: SiteQuality
SIO_000300: 1.243776e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

FS
type: SiteQuality
SIO_000300: 1.1983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.355e-1

GenotypeQuality
all individuals: 840
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6448
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3936
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2923
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2462
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5704
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3909
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17733
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.694742907500932e-4
allele num: 59006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.084598698481562e-4
allele num: 9220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14492
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.333e0

QD
type: SiteQuality
SIO_000300: 1.44e1

DP
type: SiteQuality
SIO_000300: 1.251499e6

GenotypeQuality
all individuals: 1886
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3803
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4097
bin: 9.75e1
variant carriers: 224

GenotypeQuality
all individuals: 462
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8352
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6158
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3029
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20004
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 686
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.689417488849845e-5
allele num: 59192
num of homozygotes: 0

African
type: Population
allele count: 217
allele frequency: 2.341895100366933e-2
allele num: 9266
num of homozygotes: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14548
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 1.151350219803224e-3
allele num: 9554
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.270289e6

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

QD
type: SiteQuality
SIO_000300: 1.426e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

FS
type: SiteQuality
SIO_000300: 8.179999999999999e-1

GenotypeQuality
all individuals: 763
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3455
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3046
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7666
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9408
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.031419284940412e-4
allele num: 14768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60394
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.829e1

VQSLOD
type: SiteQuality
SIO_000300: -2.461e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.989e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.34039e6

FS
type: SiteQuality
SIO_000300: 5.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

GenotypeQuality
all individuals: 7453
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4228
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3565
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2772
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.348254011055683e-4
allele num: 14834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.645765445508706e-5
allele num: 60762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4986
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 1.578e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.016e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

DP
type: SiteQuality
SIO_000300: 1.352138e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 9.43e0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7453
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2772
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4228
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 135
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4986
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.645765445508706e-5
allele num: 60762
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

DP
type: SiteQuality
SIO_000300: 1.352138e6

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.016e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 1.578e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

QD
type: SiteQuality
SIO_000300: 9.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 252
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3030
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26216
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4120
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3898
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2795
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.013863773357444e-4
allele num: 9954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.35918e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

QD
type: SiteQuality
SIO_000300: 1.086e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

GenotypeQuality
all individuals: 3941
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32600
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 828
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3899
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 458
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.322576378785875e-4
allele num: 15122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.25250501002004e-4
allele num: 7984
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.21078824851501e-5
allele num: 62290
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.053e0

QD
type: SiteQuality
SIO_000300: 1.302e1

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.426777e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 332
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 353
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3233
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3894
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39143
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4452
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64466
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.765536723163842e-4
allele num: 5664
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11036
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.926e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.085e1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

VQSLOD
type: SiteQuality
SIO_000300: -1.536e-1

DP
type: SiteQuality
SIO_000300: 1.513697e6

GenotypeQuality
all individuals: 800
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3896
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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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GenotypeQuality
all individuals: 1220
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variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.089661990978187e-5
allele num: 64732
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15720
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.17e-1

FS
type: SiteQuality
SIO_000300: 2.264e0

QD
type: SiteQuality
SIO_000300: 1.382e1

DP
type: SiteQuality
SIO_000300: 1.525413e6

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5888
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.909479686386316e-5
allele num: 11224
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.488e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.179e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.549119e6

QD
type: SiteQuality
SIO_000300: 1.395e1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.85e-1

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
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GenotypeQuality
all individuals: 42695
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variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.651254953764861e-4
allele num: 6056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16068
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.2739e1

VQSLOD
type: SiteQuality
SIO_000300: -7.457e-1

DP
type: SiteQuality
SIO_000300: 1.567744e6

MQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.302e1

GenotypeQuality
all individuals: 526
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 970
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 450
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variant carriers: 0

GenotypeQuality
all individuals: 431
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4786
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.568156900962358e-5
allele num: 65672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6056
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -7.457e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.13e0

FS
type: SiteQuality
SIO_000300: 1.2739e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

DP
type: SiteQuality
SIO_000300: 1.567744e6

QD
type: SiteQuality
SIO_000300: 1.302e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

GenotypeQuality
all individuals: 4800
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 1438
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variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 245
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 105

GenotypeQuality
all individuals: 471
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GenotypeQuality
all individuals: 955
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.633889376646181e-4
allele num: 11390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.263707571801567e-4
allele num: 6128
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.481389578163772e-4
allele num: 16120
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 89
allele frequency: 1.35192611495929e-3
allele num: 65832
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.830601092896175e-4
allele num: 10248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.96e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

DP
type: SiteQuality
SIO_000300: 1.580111e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 632
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518372304889159e-5
allele num: 65860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.898999999999999e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.244e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.579954e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
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: 6190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.546970202188609e-5
allele num: 65978
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.186e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

BaseQRankSum
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DP
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SIO_000300: 1.587297e6

FS
type: SiteQuality
SIO_000300: 1.296e0

InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.03e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1300
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GenotypeQuality
all individuals: 694
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variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.749475157452764e-4
allele num: 11432
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

European (Non-Finnish)
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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QD
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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Latino
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South Asian
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African
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European (Non-Finnish)
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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DP
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QD
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MQ
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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African
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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FS
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QD
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InbreedingCoeff
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MQ
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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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Latino
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African
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East Asian
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European (Finnish)
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Other
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South Asian
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European (Non-Finnish)
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QD
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FS
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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East Asian
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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QD
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MQ
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BaseQRankSum
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DP
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MQRankSum
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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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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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East Asian
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Other
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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DP
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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 (Non-Finnish)
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allele num: 66502
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Latino
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European (Finnish)
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South Asian
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African
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Other
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East Asian
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
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MQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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QD
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VQSLOD
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