17-79892184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892184
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892184
    reference: chr 17
allele count: 1
allele frequency: 9.736908726217601e-6
allele num: 102702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+345C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.707+18C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.797+18C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+618C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.797+18C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.878+18C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.704+18C>T
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

17-79892190-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892190
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892190
    reference: chr 17
allele count: 13
allele frequency: 1.244090569793481e-4
allele num: 104494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.797+12C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.797+12C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.704+12C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+612C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.878+12C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.707+12C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+339C>T
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37645
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8720
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

17-79892190-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892190
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892190
    reference: chr 17
allele count: 1
allele frequency: 9.569927459949853e-6
allele num: 104494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.707+12C>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.878+12C>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+339C>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.797+12C>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.704+12C>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+612C>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.797+12C>G
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37645
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 81
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genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

17-79892191-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892191
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892191
    reference: chr 17
allele count: 2
allele frequency: 1.911095822344532e-5
allele num: 104652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+338G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.797+11G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.704+11G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.878+11G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.707+11G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+611G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.797+11G>A
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

17-79892192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892192
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892192
    reference: chr 17
allele count: 3
allele frequency: 2.851277372262774e-5
allele num: 105216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+337C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+610C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.704+10C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.797+10C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.878+10C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.707+10C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.797+10C>T
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3562
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7781
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

17-79892196-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892196
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892196
    reference: chr 17
allele count: 2
allele frequency: 1.882671887943369e-5
allele num: 106232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.878+6C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.797+6C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.797+6C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.707+6C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.704+6C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+333C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+606C>T
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
hgvs: c.797+6C>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

17-79892200-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892200
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892200
    reference: chr 17
allele count: 1
allele frequency: 9.336370765955857e-6
allele num: 107108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.797+2T>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.797+2T>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.704+2T>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.707+2T>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+602T>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.878+2T>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+329T>C
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38033
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.5e0
  variant carriers: 0
hgvs: c.797+2T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-79892202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892202
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892202
    reference: chr 17
allele count: 12
allele frequency: 1.115780860638971e-4
allele num: 107548
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.878G>A
  hgvsp: ENSP00000384949.2:p.Arg293Gln
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.797G>A
  hgvsp: ENSP00000328858.8:p.Arg266Gln
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+327G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.707G>A
  hgvsp: ENSP00000463226.1:p.Arg236Gln
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.797G>A
  hgvsp: ENSP00000336579.5:p.Arg266Gln
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+600G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.704G>A
  hgvsp: ENSP00000385483.4:p.Arg235Gln
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38051
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg266Gln
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

17-79892203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892203
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892203
    reference: chr 17
allele count: 3
allele frequency: 2.783137895205581e-5
allele num: 107792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.796C>T
  hgvsp: ENSP00000336579.5:p.Arg266Trp
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.877C>T
  hgvsp: ENSP00000384949.2:p.Arg293Trp
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+326C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+599C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.796C>T
  hgvsp: ENSP00000328858.8:p.Arg266Trp
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.706C>T
  hgvsp: ENSP00000463226.1:p.Arg236Trp
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.703C>T
  hgvsp: ENSP00000385483.4:p.Arg235Trp
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg266Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

17-79892208-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892208
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892208
    reference: chr 17
allele count: 2
allele frequency: 1.843759794973911e-5
allele num: 108474
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.791G>A
  hgvsp: ENSP00000328858.8:p.Arg264His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.701G>A
  hgvsp: ENSP00000463226.1:p.Arg234His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+321G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.791G>A
  hgvsp: ENSP00000336579.5:p.Arg264His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.872G>A
  hgvsp: ENSP00000384949.2:p.Arg291His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.698G>A
  hgvsp: ENSP00000385483.4:p.Arg233His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+594G>A
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38154
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10055
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6399
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg264His
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-79892209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892209
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892209
    reference: chr 17
allele count: 4
allele frequency: 3.677957997719666e-5
allele num: 108756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.700C>T
  hgvsp: ENSP00000463226.1:p.Arg234Cys
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.790C>T
  hgvsp: ENSP00000328858.8:p.Arg264Cys
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.790C>T
  hgvsp: ENSP00000336579.5:p.Arg264Cys
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.697C>T
  hgvsp: ENSP00000385483.4:p.Arg233Cys
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+320C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+593C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.871C>T
  hgvsp: ENSP00000384949.2:p.Arg291Cys
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38113
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg264Cys
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

17-79892212-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892212
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892212
    reference: chr 17
allele count: 1
allele frequency: 9.151810228063111e-6
allele num: 109268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+317A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.868A>G
  hgvsp: ENSP00000384949.2:p.Ile290Val
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+590A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.787A>G
  hgvsp: ENSP00000328858.8:p.Ile263Val
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.787A>G
  hgvsp: ENSP00000336579.5:p.Ile263Val
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.697A>G
  hgvsp: ENSP00000463226.1:p.Ile233Val
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.694A>G
  hgvsp: ENSP00000385483.4:p.Ile232Val
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  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: 548
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile263Val
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-79892214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892214
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892214
    reference: chr 17
allele count: 1
allele frequency: 9.145783793671118e-6
allele num: 109340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.692G>A
  hgvsp: ENSP00000385483.4:p.Cys231Tyr
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.785G>A
  hgvsp: ENSP00000328858.8:p.Cys262Tyr
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+588G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.785G>A
  hgvsp: ENSP00000336579.5:p.Cys262Tyr
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+315G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.695G>A
  hgvsp: ENSP00000463226.1:p.Cys232Tyr
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.866G>A
  hgvsp: ENSP00000384949.2:p.Cys289Tyr
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys262Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

17-79892216-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892216
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892216
    reference: chr 17
allele count: 1
allele frequency: 9.128918588304029e-6
allele num: 109542
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.783C>G
  hgvsp: ENST00000329875.8:c.783C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+586C>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+313C>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.864C>G
  hgvsp: ENST00000402252.2:c.864C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.693C>G
  hgvsp: ENST00000582198.1:c.693C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.690C>G
  hgvsp: ENST00000403172.4:c.690C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.783C>G
  hgvsp: ENST00000337943.5:c.783C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser261Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

17-79892216-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892216
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892216
    reference: chr 17
allele count: 1
allele frequency: 9.128918588304029e-6
allele num: 109542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.690C>A
  hgvsp: ENST00000403172.4:c.690C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+586C>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.783C>A
  hgvsp: ENST00000329875.8:c.783C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+313C>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.693C>A
  hgvsp: ENST00000582198.1:c.693C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.864C>A
  hgvsp: ENST00000402252.2:c.864C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.783C>A
  hgvsp: ENST00000337943.5:c.783C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10370
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser261Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-79892229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892229
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892229
    reference: chr 17
allele count: 1
allele frequency: 9.139932364500503e-6
allele num: 109410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+300C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.680C>T
  hgvsp: ENSP00000463226.1:p.Ala227Val
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.770C>T
  hgvsp: ENSP00000336579.5:p.Ala257Val
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.851C>T
  hgvsp: ENSP00000384949.2:p.Ala284Val
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+573C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.677C>T
  hgvsp: ENSP00000385483.4:p.Ala226Val
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.770C>T
  hgvsp: ENSP00000328858.8:p.Ala257Val
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37155
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala257Val
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: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

17-79892230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892230
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892230
    reference: chr 17
allele count: 5
allele frequency: 4.568129077055201e-5
allele num: 109454
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.769G>A
  hgvsp: ENSP00000328858.8:p.Ala257Thr
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.676G>A
  hgvsp: ENSP00000385483.4:p.Ala226Thr
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+572G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+299G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.679G>A
  hgvsp: ENSP00000463226.1:p.Ala227Thr
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.769G>A
  hgvsp: ENSP00000336579.5:p.Ala257Thr
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.850G>A
  hgvsp: ENSP00000384949.2:p.Ala284Thr
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10631
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
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: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala257Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

17-79892231-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892231
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892231
    reference: chr 17
allele count: 7
allele frequency: 6.389543056392281e-5
allele num: 109554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+298C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+571C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.849C>T
  hgvsp: ENST00000402252.2:c.849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.675C>T
  hgvsp: ENST00000403172.4:c.675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.768C>T
  hgvsp: ENST00000329875.8:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.678C>T
  hgvsp: ENST00000582198.1:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.768C>T
  hgvsp: ENST00000337943.5:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37213
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10681
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn256Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-79892232-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892232
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892232
    reference: chr 17
allele count: 1
allele frequency: 9.122922254456548e-6
allele num: 109614
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.767A>C
  hgvsp: ENSP00000328858.8:p.Asn256Thr
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.848A>C
  hgvsp: ENSP00000384949.2:p.Asn283Thr
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.767A>C
  hgvsp: ENSP00000336579.5:p.Asn256Thr
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.677A>C
  hgvsp: ENSP00000463226.1:p.Asn226Thr
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+297A>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.674A>C
  hgvsp: ENSP00000385483.4:p.Asn225Thr
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+570A>C
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn256Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

17-79892244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892244
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892244
    reference: chr 17
allele count: 1
allele frequency: 9.197262894562578e-6
allele num: 108728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.662C>T
  hgvsp: ENSP00000385483.4:p.Ser221Phe
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.755C>T
  hgvsp: ENSP00000386002.4:p.Ser252Phe
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.755C>T
  hgvsp: ENSP00000328858.8:p.Ser252Phe
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+558C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.665C>T
  hgvsp: ENSP00000463226.1:p.Ser222Phe
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+285C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.836C>T
  hgvsp: ENSP00000384949.2:p.Ser279Phe
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.755C>T
  hgvsp: ENSP00000336579.5:p.Ser252Phe
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser252Phe
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

17-79892247-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892247
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892247
    reference: chr 17
allele count: 2
allele frequency: 1.847131404928147e-5
allele num: 108276
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.752G>A
  hgvsp: ENSP00000328858.8:p.Arg251His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+555G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.662G>A
  hgvsp: ENSP00000463226.1:p.Arg221His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.752G>A
  hgvsp: ENSP00000386002.4:p.Arg251His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.752G>A
  hgvsp: ENSP00000336579.5:p.Arg251His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.659G>A
  hgvsp: ENSP00000385483.4:p.Arg220His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+282G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.833G>A
  hgvsp: ENSP00000384949.2:p.Arg278His
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34969
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10469
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg251His
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-79892248-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892248
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892248
    reference: chr 17
allele count: 1
allele frequency: 9.233098812623493e-6
allele num: 108306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.658C>T
  hgvsp: ENSP00000385483.4:p.Arg220Cys
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.751C>T
  hgvsp: ENSP00000386002.4:p.Arg251Cys
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+281C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.661C>T
  hgvsp: ENSP00000463226.1:p.Arg221Cys
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.751C>T
  hgvsp: ENSP00000336579.5:p.Arg251Cys
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.751C>T
  hgvsp: ENSP00000328858.8:p.Arg251Cys
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.832C>T
  hgvsp: ENSP00000384949.2:p.Arg278Cys
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+554C>T
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10541
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39490
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg251Cys
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

17-79892256-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892256
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892256
    reference: chr 17
allele count: 4
allele frequency: 3.725366017211191e-5
allele num: 107372
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.650G>A
  hgvsp: ENSP00000385483.4:p.Gly217Glu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.743G>A
  hgvsp: ENSP00000336579.5:p.Gly248Glu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+273G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.743G>A
  hgvsp: ENSP00000386002.4:p.Gly248Glu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.743G>A
  hgvsp: ENSP00000328858.8:p.Gly248Glu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.824G>A
  hgvsp: ENSP00000384949.2:p.Gly275Glu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+546G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.653G>A
  hgvsp: ENSP00000463226.1:p.Gly218Glu
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10515
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly248Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD

17-79892260-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892260
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892260
    reference: chr 17
allele count: 3
allele frequency: 2.805206463195691e-5
allele num: 106944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+269A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.820A>G
  hgvsp: ENSP00000384949.2:p.Ser274Gly
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.739A>G
  hgvsp: ENSP00000336579.5:p.Ser247Gly
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.649A>G
  hgvsp: ENSP00000463226.1:p.Ser217Gly
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.739A>G
  hgvsp: ENSP00000328858.8:p.Ser247Gly
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.646A>G
  hgvsp: ENSP00000385483.4:p.Ser216Gly
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+542A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.739A>G
  hgvsp: ENSP00000386002.4:p.Ser247Gly
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10473
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33409
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser247Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

17-79892264-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892264
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892264
    reference: chr 17
allele count: 7
allele frequency: 6.600411111320649e-5
allele num: 106054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+265G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.735G>A
  hgvsp: ENST00000337943.5:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.816G>A
  hgvsp: ENST00000402252.2:c.816G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+538G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.642G>A
  hgvsp: ENST00000403172.4:c.642G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.645G>A
  hgvsp: ENST00000582198.1:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.735G>A
  hgvsp: ENST00000405481.4:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.735G>A
  hgvsp: ENST00000329875.8:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9754
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu245Leu
num of homozygotes: 1
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

17-79892267-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892267
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892267
    reference: chr 17
allele count: 1
allele frequency: 9.453225440520306e-6
allele num: 105784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.813G>A
  hgvsp: ENST00000402252.2:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.732G>A
  hgvsp: ENST00000337943.5:c.732G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.732G>A
  hgvsp: ENST00000405481.4:c.732G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.639G>A
  hgvsp: ENST00000403172.4:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+262G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.642G>A
  hgvsp: ENST00000582198.1:c.642G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+535G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.732G>A
  hgvsp: ENST00000329875.8:c.732G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val244Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-79892273-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892273
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892273
    reference: chr 17
allele count: 1
allele frequency: 9.557305604404006e-6
allele num: 104632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+529G>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.726G>C
  hgvsp: ENSP00000328858.8:p.Leu242Phe
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.726G>C
  hgvsp: ENSP00000336579.5:p.Leu242Phe
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.807G>C
  hgvsp: ENSP00000384949.2:p.Leu269Phe
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.636G>C
  hgvsp: ENSP00000463226.1:p.Leu212Phe
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.726G>C
  hgvsp: ENSP00000386002.4:p.Leu242Phe
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+256G>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.633G>C
  hgvsp: ENSP00000385483.4:p.Leu211Phe
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu242Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

17-79892277-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892277
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892277
    reference: chr 17
allele count: 1
allele frequency: 9.647853352629039e-6
allele num: 103650
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.722C>T
  hgvsp: ENSP00000328858.8:p.Ala241Val
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.803C>T
  hgvsp: ENSP00000384949.2:p.Ala268Val
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.632C>T
  hgvsp: ENSP00000463226.1:p.Ala211Val
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.722C>T
  hgvsp: ENSP00000336579.5:p.Ala241Val
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.629C>T
  hgvsp: ENSP00000385483.4:p.Ala210Val
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+525C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.722C>T
  hgvsp: ENSP00000386002.4:p.Ala241Val
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+252C>T
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala241Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

17-79892280-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892280
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892280
    reference: chr 17
allele count: 6
allele frequency: 5.823885696536729e-5
allele num: 103024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.719A>G
  hgvsp: ENSP00000336579.5:p.His240Arg
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.626A>G
  hgvsp: ENSP00000385483.4:p.His209Arg
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+522A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.629A>G
  hgvsp: ENSP00000463226.1:p.His210Arg
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.800A>G
  hgvsp: ENSP00000384949.2:p.His267Arg
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.719A>G
  hgvsp: ENSP00000386002.4:p.His240Arg
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+249A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.719A>G
  hgvsp: ENSP00000328858.8:p.His240Arg
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30327
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
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 quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His240Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-79892282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892282
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892282
    reference: chr 17
allele count: 1
allele frequency: 9.746018751340078e-6
allele num: 102606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.717C>T
  hgvsp: ENST00000405481.4:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.798C>T
  hgvsp: ENST00000402252.2:c.798C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.717C>T
  hgvsp: ENST00000337943.5:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+247C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.627C>T
  hgvsp: ENST00000582198.1:c.627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+520C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.717C>T
  hgvsp: ENST00000329875.8:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.624C>T
  hgvsp: ENST00000403172.4:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9488
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33699
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile239Ile
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

17-79892292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892292
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892292
    reference: chr 17
allele count: 1
allele frequency: 9.957977335643584e-6
allele num: 100422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.614G>A
  hgvsp: ENSP00000385483.4:p.Gly205Glu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.617G>A
  hgvsp: ENSP00000463226.1:p.Gly206Glu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+237G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.707G>A
  hgvsp: ENSP00000328858.8:p.Gly236Glu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.707G>A
  hgvsp: ENSP00000336579.5:p.Gly236Glu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.788G>A
  hgvsp: ENSP00000384949.2:p.Gly263Glu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.707G>A
  hgvsp: ENSP00000386002.4:p.Gly236Glu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+510G>A
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13629
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly236Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

17-79892293-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892293
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892293
    reference: chr 17
allele count: 1
allele frequency: 9.983626851962781e-6
allele num: 100164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.613G>A
  hgvsp: ENSP00000385483.4:p.Gly205Arg
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.706G>A
  hgvsp: ENSP00000336579.5:p.Gly236Arg
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+509G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.787G>A
  hgvsp: ENSP00000384949.2:p.Gly263Arg
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.616G>A
  hgvsp: ENSP00000463226.1:p.Gly206Arg
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.706G>A
  hgvsp: ENSP00000386002.4:p.Gly236Arg
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.706G>A
  hgvsp: ENSP00000328858.8:p.Gly236Arg
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+236G>A
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly236Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-79892298-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892298
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892298
    reference: chr 17
allele count: 1
allele frequency: 1.01243267322723e-5
allele num: 98772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.782C>T
  hgvsp: ENSP00000384949.2:p.Pro261Leu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.701C>T
  hgvsp: ENSP00000386002.4:p.Pro234Leu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.701C>T
  hgvsp: ENSP00000328858.8:p.Pro234Leu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.701C>T
  hgvsp: ENSP00000336579.5:p.Pro234Leu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.611C>T
  hgvsp: ENSP00000463226.1:p.Pro204Leu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.608C>T
  hgvsp: ENSP00000385483.4:p.Pro203Leu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+504C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+231C>T
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro234Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

17-79892305-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892305
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892305
    reference: chr 17
allele count: 1
allele frequency: 1.032183480935571e-5
allele num: 96882
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.775A>G
  hgvsp: ENSP00000384949.2:p.Ser259Gly
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.694A>G
  hgvsp: ENSP00000328858.8:p.Ser232Gly
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.694A>G
  hgvsp: ENSP00000336579.5:p.Ser232Gly
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.694A>G
  hgvsp: ENSP00000386002.4:p.Ser232Gly
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+497A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+224A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.601A>G
  hgvsp: ENSP00000385483.4:p.Ser201Gly
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.604A>G
  hgvsp: ENSP00000463226.1:p.Ser202Gly
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27146
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser232Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-79892305-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892305
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892304
    reference: chr 17
allele count: 1
allele frequency: 1.032183480935571e-5
allele num: 96882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+223delC
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.774delC
  hgvsp: ENSP00000384949.2:p.Ser259AlafsTer59
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+496delC
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.603delC
  hgvsp: ENSP00000463226.1:p.Ser202AlafsTer?
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.693delC
  hgvsp: ENSP00000386002.4:p.Ser232AlafsTer?
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.693delC
  hgvsp: ENSP00000328858.8:p.Ser232AlafsTer59
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.600delC
  hgvsp: ENSP00000385483.4:p.Ser201AlafsTer59
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.693delC
  hgvsp: ENSP00000336579.5:p.Ser232AlafsTer63
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8646
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser232AlafsTer59
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: TG
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

17-79892306-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892306
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892306
    reference: chr 17
allele count: 1
allele frequency: 1.034918137975286e-5
allele num: 96626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.693C>T
  hgvsp: ENST00000337943.5:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.600C>T
  hgvsp: ENST00000403172.4:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.774C>T
  hgvsp: ENST00000402252.2:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+496C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.603C>T
  hgvsp: ENST00000582198.1:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.693C>T
  hgvsp: ENST00000329875.8:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.693C>T
  hgvsp: ENST00000405481.4:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+223C>T
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val231Val
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

17-79892308-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892308
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892308
    reference: chr 17
allele count: 3
allele frequency: 3.133159268929504e-5
allele num: 95750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.772G>A
  hgvsp: ENSP00000384949.2:p.Val258Ile
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.601G>A
  hgvsp: ENSP00000463226.1:p.Val201Ile
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+494G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+221G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.598G>A
  hgvsp: ENSP00000385483.4:p.Val200Ile
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.691G>A
  hgvsp: ENSP00000336579.5:p.Val231Ile
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.691G>A
  hgvsp: ENSP00000386002.4:p.Val231Ile
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.691G>A
  hgvsp: ENSP00000328858.8:p.Val231Ile
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16602
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val231Ile
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-79892308-CGTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892308
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892305
    reference: chr 17
allele count: 1
allele frequency: 1.044386422976501e-5
allele num: 95750
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.769_771delAAC
  hgvsp: ENSP00000384949.2:p.Asn257del
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.688_690delAAC
  hgvsp: ENSP00000386002.4:p.Asn230del
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.688_690delAAC
  hgvsp: ENSP00000336579.5:p.Asn230del
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.595_597delAAC
  hgvsp: ENSP00000385483.4:p.Asn199del
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+491_501+493delAAC
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.688_690delAAC
  hgvsp: ENSP00000328858.8:p.Asn230del
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+218_633+220delAAC
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.598_600delAAC
  hgvsp: ENSP00000463226.1:p.Asn200del
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16602
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn230del
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: CGTT
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

17-79892309-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892309
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892309
    reference: chr 17
allele count: 5
allele frequency: 5.232205269877148e-5
allele num: 95562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.600C>T
  hgvsp: ENST00000582198.1:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.690C>T
  hgvsp: ENST00000329875.8:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.690C>T
  hgvsp: ENST00000337943.5:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.597C>T
  hgvsp: ENST00000403172.4:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.771C>T
  hgvsp: ENST00000402252.2:c.771C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+493C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+220C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.690C>T
  hgvsp: ENST00000405481.4:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26388
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8365
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn230Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-79892344-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892344
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892344
    reference: chr 17
allele count: 2
allele frequency: 2.47794627812469e-5
allele num: 80712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.655C>G
  hgvsp: ENSP00000386002.4:p.His219Asp
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.655C>G
  hgvsp: ENSP00000463343.1:p.His219Asp
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.655C>G
  hgvsp: ENSP00000328858.8:p.His219Asp
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+185C>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.736C>G
  hgvsp: ENSP00000384949.2:p.His246Asp
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.565C>G
  hgvsp: ENSP00000463226.1:p.His189Asp
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+458C>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.562C>G
  hgvsp: ENSP00000385483.4:p.His188Asp
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.655C>G
  hgvsp: ENSP00000336579.5:p.His219Asp
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13233
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His219Asp
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

17-79892353-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892353
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892353
    reference: chr 17
allele count: 1
allele frequency: 1.334685814959159e-5
allele num: 74924
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+449A>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.646A>T
  hgvsp: ENSP00000328858.8:p.Met216Leu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.727A>T
  hgvsp: ENSP00000384949.2:p.Met243Leu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.646A>T
  hgvsp: ENSP00000336579.5:p.Met216Leu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.646A>T
  hgvsp: ENSP00000386002.4:p.Met216Leu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.646A>T
  hgvsp: ENSP00000463343.1:p.Met216Leu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.556A>T
  hgvsp: ENSP00000463226.1:p.Met186Leu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.553A>T
  hgvsp: ENSP00000385483.4:p.Met185Leu
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+176A>T
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met216Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

17-79892357-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892357
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892357
    reference: chr 17
allele count: 22
allele frequency: 3.035320088300221e-4
allele num: 72480
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.642C>T
  hgvsp: ENST00000329875.8:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.723C>T
  hgvsp: ENST00000402252.2:c.723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.642C>T
  hgvsp: ENST00000585215.1:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.549C>T
  hgvsp: ENST00000403172.4:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.552C>T
  hgvsp: ENST00000582198.1:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.642C>T
  hgvsp: ENST00000405481.4:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+172C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+445C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.642C>T
  hgvsp: ENST00000337943.5:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16019
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19199
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11876
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4906
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala214Ala
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-79892367-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892367
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892367
    reference: chr 17
allele count: 1
allele frequency: 1.577137810301864e-5
allele num: 63406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.634-2A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.715-2A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.634-2A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+435A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.544-2A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+162A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.634-2A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-2A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.634-2A>G
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16971
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7990
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.25e1
  variant carriers: 0
hgvs: c.634-2A>G
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

17-79892378-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892378
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892378
    reference: chr 17
allele count: 1
allele frequency: 1.750638983228879e-5
allele num: 57122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+424C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-13C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.634-13C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.634-13C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.634-13C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.544-13C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.634-13C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+151C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.715-13C>T
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17344
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12538
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-79892379-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892379
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892379
    reference: chr 17
allele count: 1
allele frequency: 1.770977225232884e-5
allele num: 56466
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+150T>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.634-14T>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.634-14T>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.544-14T>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.715-14T>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.634-14T>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+423T>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-14T>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.634-14T>C
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13259
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

17-79892382-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892382
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892382
    reference: chr 17
allele count: 1
allele frequency: 1.912777352716144e-5
allele num: 52280
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.634-17C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-17C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.544-17C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+147C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.634-17C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+420C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.634-17C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.715-17C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.634-17C>T
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18741
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

17-79892388-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892388
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892388
    reference: chr 17
allele count: 3
allele frequency: 6.421232876712328e-5
allele num: 46720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.634-23G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-23G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.634-23G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.634-23G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+414G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.715-23G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.544-23G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+141G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.634-23G>A
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14260
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18084
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2716
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

17-79892389-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892389
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892389
    reference: chr 17
allele count: 1
allele frequency: 2.129471890971039e-5
allele num: 46960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+140C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.715-24C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.544-24C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-24C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.634-24C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.634-24C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+413C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.634-24C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.634-24C>T
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14224
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18833
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

17-79892392-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892392
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892392
    reference: chr 17
allele count: 1
allele frequency: 2.315243563622893e-5
allele num: 43192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-27A>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.634-27A>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.634-27A>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.634-27A>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.544-27A>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+410A>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+137A>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.715-27A>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.634-27A>C
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19768
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

17-79892395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892395
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892395
    reference: chr 17
allele count: 1
allele frequency: 2.481635894381576e-5
allele num: 40296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.634-30C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.715-30C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.634-30C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+407C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+134C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.544-30C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.634-30C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.634-30C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-30C>T
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11439
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19545
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

17-79892400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892400
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892400
    reference: chr 17
allele count: 8
allele frequency: 2.32734043172165e-4
allele num: 34374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-35G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.544-35G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.634-35G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.715-35G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.634-35G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+402G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.634-35G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+129G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.634-35G>A
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9090
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20721
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18987
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-79892402-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892402
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892402
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 33454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-37G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.634-37G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+400G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.634-37G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+127G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.544-37G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.634-37G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.634-37G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.715-37G>A
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20838
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4394
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-79892403-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892403
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892403
    reference: chr 17
allele count: 60
allele frequency: 2.388725216975874e-3
allele num: 25118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+126T>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+399T>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.715-38T>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.634-38T>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.544-38T>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-38T>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.634-38T>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.634-38T>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.634-38T>G
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18616
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21599
  bin: 7.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 1.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4768
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4273
  bin: 1.75e1
  variant carriers: 6
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

17-79892407-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892407
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892407
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 30320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.634-42C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-42C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+122C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.634-42C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.634-42C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.634-42C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.544-42C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+395C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.715-42C>T
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19845
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21114
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5793
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22323
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11056
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

17-79892407-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892407
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892407
    reference: chr 17
allele count: 18
allele frequency: 5.936675461741425e-4
allele num: 30320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+122C>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+395C>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.634-42C>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.634-42C>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-42C>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.544-42C>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.634-42C>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.715-42C>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.634-42C>G
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21114
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19845
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5793
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum

17-79892409-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892409
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892409
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 29558
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.634-44G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.634-44G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.634-44G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-44G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+393G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.544-44G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.715-44G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+120G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.634-44G>A
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21473
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6043
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

17-79892415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892415
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892415
    reference: chr 17
allele count: 3
allele frequency: 1.047925108285594e-4
allele num: 28628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.634-50C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.634-50C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.634-50C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+387C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.634-50C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.544-50C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-50C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.715-50C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+114C>T
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4799
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5844
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-79892484-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892484
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892484
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 19376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+318G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.633+45G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+45G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.633+45G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.714+45G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.633+45G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.543+45G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-119G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.633+45G>A
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15325
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7170
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

17-79892487-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892487
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892487
    reference: chr 17
allele count: 2
allele frequency: 1.035089535244799e-4
allele num: 19322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.633+42G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.633+42G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.543+42G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-122G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.714+42G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.633+42G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.633+42G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+315G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+42G>A
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15251
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

17-79892493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892493
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892493
    reference: chr 17
allele count: 11
allele frequency: 5.678884873515746e-4
allele num: 19370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.633+36C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-128C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.543+36C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.714+36C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+36C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.633+36C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.633+36C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+309C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.633+36C>T
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15846
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31484
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-79892496-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892496
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892496
    reference: chr 17
allele count: 40
allele frequency: 2.062068254459223e-3
allele num: 19398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.633+33A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.633+33A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+33A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.633+33A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.714+33A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-131A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.633+33A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.543+33A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+306A>G
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16232
  bin: 7.5e0
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31089
  bin: 2.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 27397
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 4
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

17-79892504-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892504
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892504
    reference: chr 17
allele count: 10
allele frequency: 5.093205663644698e-4
allele num: 19634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.633+25G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+25G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.633+25G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.543+25G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+298G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.633+25G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-139G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.633+25G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.714+25G>A
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17518
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

17-79892525-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892525
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892525
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 21028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.543+4A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.714+4A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.633+4A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.633+4A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.633+4A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+277A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.633+4A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-160A>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+4A>G
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23974
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24254
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 2.5e0
  variant carriers: 0
hgvs: c.633+4A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-79892527-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892527
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892527
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 21210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.543+2T>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+2T>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.633+2T>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.714+2T>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+275T>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.633+2T>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.633+2T>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-162T>G
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.633+2T>G
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: splice donor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23098
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
hgvs: c.633+2T>G
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-79892528-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892528
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892528
    reference: chr 17
allele count: 2
allele frequency: 9.407337723424271e-5
allele num: 21260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.633+1G>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.633+1G>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.633+1G>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.633+1G>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.543+1G>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+274G>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-163G>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.633+1G>C
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.714+1G>C
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22620
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5838
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 9.25e1
  variant carriers: 1
hgvs: c.633+1G>C
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/17-79892537-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892537
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892537
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 22180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.625G>T
  hgvsp: ENSP00000386002.4:p.Ala209Ser
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.706G>T
  hgvsp: ENSP00000384949.2:p.Ala236Ser
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.625G>T
  hgvsp: ENSP00000463343.1:p.Ala209Ser
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.625G>T
  hgvsp: ENSP00000328858.8:p.Ala209Ser
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.625G>T
  hgvsp: ENSP00000336579.5:p.Ala209Ser
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.535G>T
  hgvsp: ENSP00000463226.1:p.Ala179Ser
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.625G>T
  hgvsp: ENSP00000463352.1:p.Ala209Ser
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-172G>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+265G>T
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28919
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5837
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Ala209Ser
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

17-79892546-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892546
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892546
    reference: chr 17
allele count: 1
allele frequency: 4.307745326096321e-5
allele num: 23214
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.616G>A
  hgvsp: ENSP00000328858.8:p.Gly206Arg
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+256G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.526G>A
  hgvsp: ENSP00000463226.1:p.Gly176Arg
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.697G>A
  hgvsp: ENSP00000384949.2:p.Gly233Arg
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.616G>A
  hgvsp: ENSP00000336579.5:p.Gly206Arg
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.616G>A
  hgvsp: ENSP00000463352.1:p.Gly206Arg
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-181G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.616G>A
  hgvsp: ENSP00000386002.4:p.Gly206Arg
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.616G>A
  hgvsp: ENSP00000463343.1:p.Gly206Arg
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly206Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

17-79892547-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892547
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892547
    reference: chr 17
allele count: 6
allele frequency: 2.574002574002574e-4
allele num: 23310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-182C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.696C>T
  hgvsp: ENST00000402252.2:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.615C>T
  hgvsp: ENST00000577756.1:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.615C>T
  hgvsp: ENST00000329875.8:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.615C>T
  hgvsp: ENST00000337943.5:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.615C>T
  hgvsp: ENST00000405481.4:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+255C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.615C>T
  hgvsp: ENST00000585215.1:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.525C>T
  hgvsp: ENST00000582198.1:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30461
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16669
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28294
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu205Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-79892551-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892551
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892551
    reference: chr 17
allele count: 1
allele frequency: 4.231192350004231e-5
allele num: 23634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.611G>A
  hgvsp: ENSP00000336579.5:p.Arg204His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-186G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+251G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.611G>A
  hgvsp: ENSP00000463343.1:p.Arg204His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.521G>A
  hgvsp: ENSP00000463226.1:p.Arg174His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.611G>A
  hgvsp: ENSP00000386002.4:p.Arg204His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.611G>A
  hgvsp: ENSP00000463352.1:p.Arg204His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.611G>A
  hgvsp: ENSP00000328858.8:p.Arg204His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.692G>A
  hgvsp: ENSP00000384949.2:p.Arg231His
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30557
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg204His
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

17-79892552-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892552
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892552
    reference: chr 17
allele count: 1
allele frequency: 4.192520543350663e-5
allele num: 23852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.610C>T
  hgvsp: ENSP00000336579.5:p.Arg204Cys
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+250C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.610C>T
  hgvsp: ENSP00000386002.4:p.Arg204Cys
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-187C>T
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.610C>T
  hgvsp: ENSP00000463352.1:p.Arg204Cys
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.691C>T
  hgvsp: ENSP00000384949.2:p.Arg231Cys
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.520C>T
  hgvsp: ENSP00000463226.1:p.Arg174Cys
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.610C>T
  hgvsp: ENSP00000328858.8:p.Arg204Cys
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.610C>T
  hgvsp: ENSP00000463343.1:p.Arg204Cys
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg204Cys
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-79892563-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79892563
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79892563
    reference: chr 17
allele count: 1
allele frequency: 4.074647542987532e-5
allele num: 24542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463352
  ensembl transcript: ENST00000577756
  gene symbol: PYCR1
  hgvsc: ENST00000577756.1:c.599G>A
  hgvsp: ENSP00000463352.1:p.Arg200His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463342
  ensembl transcript: ENST00000584848
  gene symbol: PYCR1
  hgvsc: ENST00000584848.1:c.501+239G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463343
  ensembl transcript: ENST00000585215
  gene symbol: PYCR1
  hgvsc: ENST00000585215.1:c.599G>A
  hgvsp: ENSP00000463343.1:p.Arg200His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000384949
  ensembl transcript: ENST00000402252
  gene symbol: PYCR1
  hgvsc: ENST00000402252.2:c.680G>A
  hgvsp: ENSP00000384949.2:p.Arg227His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000463226
  ensembl transcript: ENST00000582198
  gene symbol: PYCR1
  hgvsc: ENST00000582198.1:c.509G>A
  hgvsp: ENSP00000463226.1:p.Arg170His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000386002
  ensembl transcript: ENST00000405481
  gene symbol: PYCR1
  hgvsc: ENST00000405481.4:c.599G>A
  hgvsp: ENSP00000386002.4:p.Arg200His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000385483
  ensembl transcript: ENST00000403172
  gene symbol: PYCR1
  hgvsc: ENST00000403172.4:c.541-198G>A
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000336579
  ensembl transcript: ENST00000337943
  gene symbol: PYCR1
  hgvsc: ENST00000337943.5:c.599G>A
  hgvsp: ENSP00000336579.5:p.Arg200His
  variant of: http://identifiers.org/hgnc/9721
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183010
  ensembl protein: ENSP00000328858
  ensembl transcript: ENST00000329875
  gene symbol: PYCR1
  hgvsc: ENST00000329875.8:c.599G>A
  hgvsp: ENSP00000328858.8:p.Arg200His
  variant of: http://identifiers.org/hgnc/9721
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16985
  bin: 2.5e0
  variant carriers: 2
hgvs: p.Arg200His
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 635
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8931
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3415
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4404
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.314405888538381e-4
allele num: 7608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14214
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.216399e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 3.263e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.347e0

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

GenotypeQuality
all individuals: 639
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 3520
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8133
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 547
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 8.321775312066575e-4
allele num: 14420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.706018834447932e-5
allele num: 58616
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4532
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
SIO_000300: 1.268e1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.234486e6

GenotypeQuality
all individuals: 3520
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40423
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.706018834447932e-5
allele num: 58616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9898
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

QD
type: SiteQuality
SIO_000300: 1.268e1

DP
type: SiteQuality
SIO_000300: 1.234486e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 7985
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39978
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4562
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.932889628397117e-5
allele num: 14424
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7764
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.211e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.21e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 2.252e0

DP
type: SiteQuality
SIO_000300: 1.237626e6

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

GenotypeQuality
all individuals: 649
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 635
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8672
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.39236040436936e-5
allele num: 58956
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.001001001001001e-4
allele num: 9990
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4606
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.851e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.573e0

VQSLOD
type: SiteQuality
SIO_000300: -1.477e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.03e-1

FS
type: SiteQuality
SIO_000300: 1.421e0

DP
type: SiteQuality
SIO_000300: 1.244319e6

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

GenotypeQuality
all individuals: 198
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40918
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 541
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.976284584980237e-4
allele num: 10120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4700
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

QD
type: SiteQuality
SIO_000300: 1.579e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

FS
type: SiteQuality
SIO_000300: 4.472e0

DP
type: SiteQuality
SIO_000300: 1.250916e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 57
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7050
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41386
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 976
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.668947561667613e-5
allele num: 59918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.258951e6

FS
type: SiteQuality
SIO_000300: 8.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.43e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.85e-1

GenotypeQuality
all individuals: 547
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6862
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3669
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41592
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1047
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 619
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.663506005256679e-4
allele num: 60114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4826
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.36035913481159e-4
allele num: 14702
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.105e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e-1

MQ
type: SiteQuality
SIO_000300: 5.902e1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

DP
type: SiteQuality
SIO_000300: 1.265046e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

GenotypeQuality
all individuals: 496
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3708
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41554
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4846
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.793478260869565e-5
allele num: 14720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.518257365902795e-4
allele num: 7942
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.267012e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.042e0

QD
type: SiteQuality
SIO_000300: 7.47e0

GenotypeQuality
all individuals: 41973
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3720
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.648641519388024e-5
allele num: 60656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9032
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.763154335181928e-5
allele num: 14786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.277475e6

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.367e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.199e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.42e-1

QD
type: SiteQuality
SIO_000300: 5.82e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 313
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variant carriers: 4

GenotypeQuality
all individuals: 170
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4940
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.935184575903139e-5
allele num: 60788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7974
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.596928982725528e-5
allele num: 10420
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 1.506e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

QD
type: SiteQuality
SIO_000300: 1.102e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 1.277213e6

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10476
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.638914383112626e-5
allele num: 61016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.053e0

DP
type: SiteQuality
SIO_000300: 1.280844e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

QD
type: SiteQuality
SIO_000300: 1.298e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

GenotypeQuality
all individuals: 148
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6198
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 190
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 592
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variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.638216310081583e-5
allele num: 61042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5006
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9120
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.384e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 8.029999999999999e0

DP
type: SiteQuality
SIO_000300: 1.282597e6

MQRankSum
type: SiteQuality
SIO_000300: 2.82e0

FS
type: SiteQuality
SIO_000300: 5.605e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.544e0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 528
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GenotypeQuality
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GenotypeQuality
all individuals: 43
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 200
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GenotypeQuality
all individuals: 547
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GenotypeQuality
all individuals: 1059
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5030
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.63569746139754e-5
allele num: 61136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.284108e6

FS
type: SiteQuality
SIO_000300: 5.534e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.525e0

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

QD
type: SiteQuality
SIO_000300: 1.158e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e-1

GenotypeQuality
all individuals: 114
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5030
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10528
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.704210244033253e-5
allele num: 14916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

DP
type: SiteQuality
SIO_000300: 1.284108e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e-1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.525e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.158e1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7990
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.532888465204957e-5
allele num: 10490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5080
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14792
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.525e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.515e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

DP
type: SiteQuality
SIO_000300: 1.277177e6

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.907734589713388e-5
allele num: 61128
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.251251251251251e-4
allele num: 7992
num of homozygotes: 0

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

Latino
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: 764
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South Asian
type: Population
allele count: 1
allele frequency: 6.76223965377333e-5
allele num: 14788
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

FS
type: SiteQuality
SIO_000300: 5.38e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.278991e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-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
all individuals: 933
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GenotypeQuality
all individuals: 3726
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.927729772191673e-4
allele num: 5092
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.087429317094389e-4
allele num: 9196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.634360801490537e-5
allele num: 61186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.025931928687196e-4
allele num: 14808
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.117e0

QD
type: SiteQuality
SIO_000300: 1.183e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
SIO_000300: 8.03e-1

DP
type: SiteQuality
SIO_000300: 1.280439e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.070000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

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

GenotypeQuality
all individuals: 43
bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61208
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.264e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.278794e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: -2.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.53e-1

QD
type: SiteQuality
SIO_000300: 9.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

GenotypeQuality
all individuals: 39910
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.809206046574969e-5
allele num: 14686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60738
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.262759e6

FS
type: SiteQuality
SIO_000300: 6.309e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.229e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.624e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.6e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

QD
type: SiteQuality
SIO_000300: 1.03e1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e-1

GenotypeQuality
all individuals: 38667
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 205
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 2
allele frequency: 2.183882943874208e-4
allele num: 9158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5030
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.482e0

QD
type: SiteQuality
SIO_000300: 6.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.927e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.02e-1

DP
type: SiteQuality
SIO_000300: 1.257882e6

GenotypeQuality
all individuals: 978
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7902
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variant carriers: 0

GenotypeQuality
all individuals: 330
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GenotypeQuality
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GenotypeQuality
all individuals: 3545
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variant carriers: 0

GenotypeQuality
all individuals: 891
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variant carriers: 0

GenotypeQuality
all individuals: 504
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variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.089799476896251e-4
allele num: 9176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7864
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

DP
type: SiteQuality
SIO_000300: 1.259273e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 2.504e0

VQSLOD
type: SiteQuality
SIO_000300: -1.244e0

QD
type: SiteQuality
SIO_000300: 2.184e1

GenotypeQuality
all individuals: 510
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60150
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9132
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 5.134788189987163e-4
allele num: 7790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14458
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.113e0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 1.246309e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.276e1

GenotypeQuality
all individuals: 1281
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 505
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 316
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variant carriers: 3

GenotypeQuality
all individuals: 961
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 38030
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variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 3.011443485243927e-4
allele num: 9962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7766
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4972
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

FS
type: SiteQuality
SIO_000300: 4.673e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

DP
type: SiteQuality
SIO_000300: 1.238907e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.096e0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.024999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

GenotypeQuality
all individuals: 872
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7688
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.312720848056537e-4
allele num: 9056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59560
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.795638803466592e-4
allele num: 14308
num of homozygotes: 1

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

QD
type: SiteQuality
SIO_000300: 2.079e1

FS
type: SiteQuality
SIO_000300: 1.861e0

VQSLOD
type: SiteQuality
SIO_000300: -2.225e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.68e-1

DP
type: SiteQuality
SIO_000300: 1.228975e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.557e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.68e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 308
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
all individuals: 186
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variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 866
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GenotypeQuality
all individuals: 313
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4912
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.997900629811057e-5
allele num: 14290
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.875e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 5.135e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.889e-1

DP
type: SiteQuality
SIO_000300: 1.226195e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

MQ
type: SiteQuality
SIO_000300: 5.891e1

QD
type: SiteQuality
SIO_000300: 1.225e1

GenotypeQuality
all individuals: 35525
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
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GenotypeQuality
all individuals: 3154
bin: 6.75e1
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GenotypeQuality
all individuals: 1353
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
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GenotypeQuality
all individuals: 10769
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variant carriers: 0

GenotypeQuality
all individuals: 188
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variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58876
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.0530749789385e-4
allele num: 9496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4838
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7562
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.115e0

VQSLOD
type: SiteQuality
SIO_000300: -3.512e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

QD
type: SiteQuality
SIO_000300: 2.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.211879e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 315
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variant carriers: 1

GenotypeQuality
all individuals: 507
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4798
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.712974065572647e-5
allele num: 58378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14038
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

DP
type: SiteQuality
SIO_000300: 1.197774e6

QD
type: SiteQuality
SIO_000300: 1.376e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.813e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.736e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.645e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.032844453625284e-4
allele num: 58092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13968
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7400
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.122e0

DP
type: SiteQuality
SIO_000300: 1.18889e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.272e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.22e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 537
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variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.727115716753023e-5
allele num: 57900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4726
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

QD
type: SiteQuality
SIO_000300: 9.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.659e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.683e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

DP
type: SiteQuality
SIO_000300: 1.184927e6

GenotypeQuality
all individuals: 173
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 184
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variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56808
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.140250855188141e-4
allele num: 8770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4548
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7198
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.034e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

DP
type: SiteQuality
SIO_000300: 1.160866e6

VQSLOD
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.687e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 173
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 185
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GenotypeQuality
all individuals: 446
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7174
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.140510948905109e-4
allele num: 8768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13658
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.158829e6

QD
type: SiteQuality
SIO_000300: 9.41e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-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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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7092
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8688
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.196458482890644e-4
allele num: 8358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55948
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4458
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-1

FS
type: SiteQuality
SIO_000300: 2.363e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.738e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.65e-1

DP
type: SiteQuality
SIO_000300: 1.144241e6

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: 492
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6970
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.469375560203167e-5
allele num: 13388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54934
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 1.133e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e0

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.04e-1

DP
type: SiteQuality
SIO_000300: 1.122076e6

GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.302025782688766e-4
allele num: 4344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.122076e6

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 1.133e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 16229
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GenotypeQuality
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GenotypeQuality
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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: 315
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variant carriers: 1

GenotypeQuality
all individuals: 189
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6946
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54792
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.480550568521843e-5
allele num: 13368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

QD
type: SiteQuality
SIO_000300: 1.019e1

VQSLOD
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 4.641e0

DP
type: SiteQuality
SIO_000300: 1.119444e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e0

GenotypeQuality
all individuals: 131
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 318
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 484
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.353494939985879e-4
allele num: 8498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4258
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.525586995785671e-5
allele num: 13288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6902
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 4.052e0

DP
type: SiteQuality
SIO_000300: 1.111676e6

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54310
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.525586995785671e-5
allele num: 13288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6902
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.052e0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 1.111676e6

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1023
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.178411501296253e-4
allele num: 8486
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.546030787805614e-5
allele num: 13252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54210
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.906976744186046e-4
allele num: 6880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.281065846784525e-4
allele num: 7806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4262
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.107388e6

FS
type: SiteQuality
SIO_000300: 5.552e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.197e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.872e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

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

GenotypeQuality
all individuals: 260
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GenotypeQuality
all individuals: 826
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5784
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12232
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3344
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.689618074233459e-4
allele num: 7436
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

DP
type: SiteQuality
SIO_000300: 9.3909e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
SIO_000300: -8.434e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

QD
type: SiteQuality
SIO_000300: 1.003e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
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variant carriers: 0

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

GenotypeQuality
all individuals: 711
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variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.484642796538266e-5
allele num: 11786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2924
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5146
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

QD
type: SiteQuality
SIO_000300: 5.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.88e-1

FS
type: SiteQuality
SIO_000300: 9.276e0

MQRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.726e0

DP
type: SiteQuality
SIO_000300: 8.62128e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.332e0

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
all individuals: 217
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GenotypeQuality
all individuals: 335
bin: 9.75e1
variant carriers: 21

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 5.433440355643369e-4
allele num: 40490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2780
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.805e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.173e1

VQSLOD
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

DP
type: SiteQuality
SIO_000300: 8.30706e5

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: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3702
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.110787172011662e-5
allele num: 10976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35200
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

QD
type: SiteQuality
SIO_000300: 8.539999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.81e-2

FS
type: SiteQuality
SIO_000300: 3.358e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

DP
type: SiteQuality
SIO_000300: 7.36004e5

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.093e0

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

GenotypeQuality
all individuals: 453
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GenotypeQuality
all individuals: 540
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.168969451134491e-5
allele num: 31556
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.56e-2

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.59067e5

MQ
type: SiteQuality
SIO_000300: 5.805e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
all individuals: 386
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 535
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.556574923547401e-5
allele num: 10464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2910
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

QD
type: SiteQuality
SIO_000300: 1.661e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.119e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

DP
type: SiteQuality
SIO_000300: 6.49188e5

GenotypeQuality
all individuals: 454
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1173
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4810
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28720
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.792401096748923e-5
allele num: 10212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.371e1

FS
type: SiteQuality
SIO_000300: 6.37e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.092e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.03e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.13e-1

DP
type: SiteQuality
SIO_000300: 6.16606e5

GenotypeQuality
all individuals: 2465
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22408
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1924
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.186333438785195e-4
allele num: 25288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.394e-1

DP
type: SiteQuality
SIO_000300: 5.83008e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
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variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1912
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variant carriers: 0

GenotypeQuality
all individuals: 2660
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 4247
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variant carriers: 0

GenotypeQuality
all individuals: 453
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variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25400
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.949852507374631e-4
allele num: 3390
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.81597e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.55e-2

FS
type: SiteQuality
SIO_000300: 2.124e0

VQSLOD
type: SiteQuality
SIO_000300: -1.438e0

QD
type: SiteQuality
SIO_000300: 6.05e0

GenotypeQuality
all individuals: 19802
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2689
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
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variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3439
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
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variant carriers: 1

GenotypeQuality
all individuals: 633
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variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 455
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variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23034
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.186270222999563e-4
allele num: 4574
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1644
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.84e-2

DP
type: SiteQuality
SIO_000300: 5.59154e5

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.43e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

FS
type: SiteQuality
SIO_000300: 2.563e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

GenotypeQuality
all individuals: 531
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20879
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 182
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variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
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variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 317
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variant carriers: 2

GenotypeQuality
all individuals: 18065
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3907
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
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variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2828
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.053518752633797e-4
allele num: 9492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.725e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.032e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.08e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.558999999999999e-1

DP
type: SiteQuality
SIO_000300: 5.43289e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

GenotypeQuality
all individuals: 4551
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4951
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1321
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2305
bin: 2.5e0
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GenotypeQuality
all individuals: 146
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
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variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 630
bin: 7.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17438
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 2.164502164502165e-3
allele num: 3696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1018
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9116
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.992e0

DP
type: SiteQuality
SIO_000300: 5.17051e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.52e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.253e1

GenotypeQuality
all individuals: 2221
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5241
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22079
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 186
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GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
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GenotypeQuality
all individuals: 1122
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3312
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 535
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16776
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.11216e5

QD
type: SiteQuality
SIO_000300: 6.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.55e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

GenotypeQuality
all individuals: 519
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 19163
bin: 7.5e0
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GenotypeQuality
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bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 968
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 7575
bin: 2.25e1
variant carriers: 10

GenotypeQuality
all individuals: 453
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variant carriers: 3

GenotypeQuality
all individuals: 172
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 2970
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 672
bin: 3.25e1
variant carriers: 10

GenotypeQuality
all individuals: 323
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variant carriers: 10

GenotypeQuality
all individuals: 142
bin: 4.25e1
variant carriers: 6

GenotypeQuality
all individuals: 12520
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 185
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1049
bin: 6.75e1
variant carriers: 1

African
type: Population
allele count: 17
allele frequency: 6.961506961506962e-3
allele num: 2442
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.807692307692308e-3
allele num: 208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 36
allele frequency: 3.057584508238492e-3
allele num: 11774
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.440922190201729e-3
allele num: 1388
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.366863905325444e-4
allele num: 8450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.716981132075472e-3
allele num: 212
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.552795031055901e-3
allele num: 644
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.62e-2

DP
type: SiteQuality
SIO_000300: 5.11189e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.534000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.093e0

FS
type: SiteQuality
SIO_000300: 4.9325e1

QD
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 538
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14986
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 4.9824e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.24e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

QD
type: SiteQuality
SIO_000300: 1.536e1

GenotypeQuality
all individuals: 1111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 19

GenotypeQuality
all individuals: 22323
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GenotypeQuality
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bin: 5.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

East Asian
type: Population
allele count: 17
allele frequency: 8.985200845665961e-3
allele num: 1892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.166666666666667e-3
allele num: 240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8802
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.24e-2

DP
type: SiteQuality
SIO_000300: 4.9824e5

QD
type: SiteQuality
SIO_000300: 1.536e1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

GenotypeQuality
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bin: 9.25e1
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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variant carriers: 0

GenotypeQuality
all individuals: 125
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GenotypeQuality
all individuals: 3138
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.95181e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.93e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.065e0

QD
type: SiteQuality
SIO_000300: 4.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-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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variant carriers: 3

GenotypeQuality
all individuals: 1190
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GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.484320557491289e-4
allele num: 2870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1668
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.297266253158741e-4
allele num: 8706
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.04e-2

DP
type: SiteQuality
SIO_000300: 4.95809e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

GenotypeQuality
all individuals: 151
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4649
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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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variant carriers: 0

GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1992
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.91e-2

DP
type: SiteQuality
SIO_000300: 6.82279e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.075e0

QD
type: SiteQuality
SIO_000300: 7.32e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5833
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.008032128514056e-3
allele num: 498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.287001287001287e-4
allele num: 7770
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.91e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 2.604e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.83399e5

QD
type: SiteQuality
SIO_000300: 1.304e1

VQSLOD
type: SiteQuality
SIO_000300: -8.849e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4920
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 157
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7800
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 5.450941526263627e-3
allele num: 2018
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.309e1

FS
type: SiteQuality
SIO_000300: 5.698e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

DP
type: SiteQuality
SIO_000300: 6.90449e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.457e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.248e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.64e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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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: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 53

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 921
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GenotypeQuality
all individuals: 166
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 4.73509086255439e-3
allele num: 7814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7980
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.0e-3
allele num: 500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 4.930966469428008e-4
allele num: 2028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 8.474576271186441e-3
allele num: 118
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.33e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.52e-2

FS
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 6.93264e5

GenotypeQuality
all individuals: 5844
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 160
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GenotypeQuality
all individuals: 61
bin: 4.75e1
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GenotypeQuality
all individuals: 159
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GenotypeQuality
all individuals: 101
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GenotypeQuality
all individuals: 12015
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GenotypeQuality
all individuals: 1933
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GenotypeQuality
all individuals: 1109
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GenotypeQuality
all individuals: 167
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 4.798464491362764e-3
allele num: 2084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.486e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

FS
type: SiteQuality
SIO_000300: 1.261e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.39e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

DP
type: SiteQuality
SIO_000300: 7.02926e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8758
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.619e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.38e-2

MQ
type: SiteQuality
SIO_000300: 5.763e1

QD
type: SiteQuality
SIO_000300: 1.017e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.111e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 7.52698e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

GenotypeQuality
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bin: 9.25e1
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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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 928
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8870
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.033e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.24e-2

FS
type: SiteQuality
SIO_000300: 3.358e0

DP
type: SiteQuality
SIO_000300: 7.58747e5

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

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
all individuals: 1611
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.142502071251035e-4
allele num: 2414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.122838535818549e-4
allele num: 8906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.15e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.014e1

FS
type: SiteQuality
SIO_000300: 4.43e0

DP
type: SiteQuality
SIO_000300: 7.61744e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-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
all individuals: 174
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1008
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.88845e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.041e1

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.71e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10050
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1078
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: 2690
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.231223836493475e-4
allele num: 8122
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.23e0

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.37e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

QD
type: SiteQuality
SIO_000300: 1.101e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.19e-1

DP
type: SiteQuality
SIO_000300: 8.02547e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1104
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.460024600246002e-4
allele num: 8130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.676470588235294e-4
allele num: 2720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 2.979737783075089e-4
allele num: 10068
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.49e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.37e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

DP
type: SiteQuality
SIO_000300: 8.03945e5

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

QD
type: SiteQuality
SIO_000300: 1.05e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1150
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10270
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 232
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South Asian
type: Population
allele count: 1
allele frequency: 1.228501228501228e-4
allele num: 8140
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.720000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.07855e5

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1142
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.077586206896552e-3
allele num: 928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.32e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.215e0

DP
type: SiteQuality
SIO_000300: 8.08115e5

FS
type: SiteQuality
SIO_000300: 5.021e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.726e0

QD
type: SiteQuality
SIO_000300: 6.82e0