12-27800723-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800723
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800723
    reference: chr 12
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.419G>A
  hgvsp: ENSP00000444046.1:p.Cys140Tyr
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.419G>A
  hgvsp: ENSP00000445822.1:p.Cys140Tyr
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.419G>A
  hgvsp: ENSP00000314724.8:p.Cys140Tyr
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.419G>A
  hgvsp: ENSP00000443442.1:p.Cys140Tyr
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.-41G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.419G>A
  hgvsp: ENSP00000228425.6:p.Cys140Tyr
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1642G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.-41G>A
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26740
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys140Tyr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

12-27800734-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800734
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800734
    reference: chr 12
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.430C>G
  hgvsp: ENSP00000444046.1:p.His144Asp
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.430C>G
  hgvsp: ENSP00000314724.8:p.His144Asp
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.430C>G
  hgvsp: ENSP00000443442.1:p.His144Asp
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.430C>G
  hgvsp: ENSP00000228425.6:p.His144Asp
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.-30C>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.-30C>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1653C>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.430C>G
  hgvsp: ENSP00000445822.1:p.His144Asp
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26740
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His144Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-27800735-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800735
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800735
    reference: chr 12
allele count: 5
allele frequency: 4.125616779708567e-5
allele num: 121194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.431A>G
  hgvsp: ENSP00000444046.1:p.His144Arg
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.431A>G
  hgvsp: ENSP00000443442.1:p.His144Arg
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.-29A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1654A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.431A>G
  hgvsp: ENSP00000228425.6:p.His144Arg
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.431A>G
  hgvsp: ENSP00000445822.1:p.His144Arg
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.431A>G
  hgvsp: ENSP00000314724.8:p.His144Arg
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.-29A>G
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26742
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His144Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-27800736-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800736
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800736
    reference: chr 12
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.432C>A
  hgvsp: ENSP00000444046.1:p.His144Gln
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.432C>A
  hgvsp: ENSP00000228425.6:p.His144Gln
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1655C>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.432C>A
  hgvsp: ENSP00000314724.8:p.His144Gln
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.432C>A
  hgvsp: ENSP00000443442.1:p.His144Gln
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.-28C>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.432C>A
  hgvsp: ENSP00000445822.1:p.His144Gln
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.-28C>A
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26740
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3755
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His144Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

12-27800739-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800739
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800739
    reference: chr 12
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.435A>G
  hgvsp: ENST00000535047.1:c.435A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.435A>G
  hgvsp: ENST00000545381.1:c.435A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.435A>G
  hgvsp: ENST00000542629.1:c.435A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.435A>G
  hgvsp: ENST00000318304.8:c.435A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.435A>G
  hgvsp: ENST00000228425.6:c.435A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1658A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26741
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg145Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

12-27800746-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800746
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800746
    reference: chr 12
allele count: 121051
allele frequency: 9.971580612211276e-1
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.-18G>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.442G>T
  hgvsp: ENSP00000443442.1:p.Val148Leu
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1665G>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.442G>T
  hgvsp: ENSP00000445822.1:p.Val148Leu
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.442G>T
  hgvsp: ENSP00000314724.8:p.Val148Leu
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.-18G>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.442G>T
  hgvsp: ENSP00000444046.1:p.Val148Leu
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.442G>T
  hgvsp: ENSP00000228425.6:p.Val148Leu
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.25e1
  variant carriers: 765
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 8.25e1
  variant carriers: 782
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.25e1
  variant carriers: 270
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 844
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.75e1
  variant carriers: 931
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 2.75e1
  variant carriers: 492
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 663
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 653
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 920
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 49489
  bin: 9.75e1
  variant carriers: 49489
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 550
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.25e1
  variant carriers: 1093
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.25e1
  variant carriers: 545
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 8.75e1
  variant carriers: 952
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 9.25e1
  variant carriers: 1059
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 530
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 6.25e1
  variant carriers: 88
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val148Leu
num of homozygotes: 60354
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-27800755-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800755
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800755
    reference: chr 12
allele count: 7
allele frequency: 5.775863491591993e-5
allele num: 121194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.451A>G
  hgvsp: ENSP00000228425.6:p.Thr151Ala
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.451A>G
  hgvsp: ENSP00000443442.1:p.Thr151Ala
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.-9A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.-9A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.451A>G
  hgvsp: ENSP00000314724.8:p.Thr151Ala
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.451A>G
  hgvsp: ENSP00000444046.1:p.Thr151Ala
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1674A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.451A>G
  hgvsp: ENSP00000445822.1:p.Thr151Ala
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29867
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5400
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr151Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

12-27800764-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800764
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800764
    reference: chr 12
allele count: 5
allele frequency: 4.132777887985188e-5
allele num: 120984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.460A>G
  hgvsp: ENSP00000443442.1:p.Met154Val
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.1A>G
  hgvsp: ENSP00000442462.1:p.Met1?
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1683A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.460A>G
  hgvsp: ENSP00000314724.8:p.Met154Val
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.1A>G
  hgvsp: ENSP00000445425.1:p.Met1?
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.460A>G
  hgvsp: ENSP00000228425.6:p.Met154Val
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.460A>G
  hgvsp: ENSP00000445822.1:p.Met154Val
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.460A>G
  hgvsp: ENSP00000444046.1:p.Met154Val
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41641
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

12-27800765-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800765
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800765
    reference: chr 12
allele count: 18
allele frequency: 1.488169056004762e-4
allele num: 120954
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.2T>C
  hgvsp: ENSP00000442462.1:p.Met1?
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.461T>C
  hgvsp: ENSP00000444046.1:p.Met154Thr
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.461T>C
  hgvsp: ENSP00000314724.8:p.Met154Thr
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.461T>C
  hgvsp: ENSP00000443442.1:p.Met154Thr
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.2T>C
  hgvsp: ENSP00000445425.1:p.Met1?
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.461T>C
  hgvsp: ENSP00000445822.1:p.Met154Thr
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1684T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.461T>C
  hgvsp: ENSP00000228425.6:p.Met154Thr
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-27800767-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800767
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800767
    reference: chr 12
allele count: 1
allele frequency: 8.271435424903638e-6
allele num: 120898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1686C>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.463C>A
  hgvsp: ENSP00000444046.1:p.Leu155Met
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.463C>A
  hgvsp: ENSP00000443442.1:p.Leu155Met
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.463C>A
  hgvsp: ENSP00000228425.6:p.Leu155Met
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.4C>A
  hgvsp: ENSP00000442462.1:p.Leu2Met
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.463C>A
  hgvsp: ENSP00000445822.1:p.Leu155Met
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.4C>A
  hgvsp: ENSP00000445425.1:p.Leu2Met
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.463C>A
  hgvsp: ENSP00000314724.8:p.Leu155Met
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41480
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu155Met
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-27800769-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800769
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800769
    reference: chr 12
allele count: 1241
allele frequency: 1.027028816392737e-2
allele num: 120834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.6G>A
  hgvsp: ENST00000538433.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1688G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.465G>A
  hgvsp: ENST00000535047.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.465G>A
  hgvsp: ENST00000542629.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.465G>A
  hgvsp: ENST00000545381.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.6G>A
  hgvsp: ENST00000537927.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.465G>A
  hgvsp: ENST00000228425.6:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.465G>A
  hgvsp: ENST00000318304.8:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 9.75e1
  variant carriers: 606
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 3.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 29698
  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 8354
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 13511
  bin: 3.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41537
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu155Leu
num of homozygotes: 16
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-27800778-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800778
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800778
    reference: chr 12
allele count: 7
allele frequency: 5.820528171356349e-5
allele num: 120264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+3A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+3A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1697A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.474A>G
  hgvsp: ENST00000535047.1:c.474A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+3A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+3A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+3A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+3A>G
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 2.25e1
  variant carriers: 0
hgvs: c.471+3A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

12-27800779-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800779
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800779
    reference: chr 12
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+4T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+4T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+4T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+4T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+4T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+4T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.475T>C
  hgvsp: ENSP00000444046.1:p.Cys159Arg
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1698T>C
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4340
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys159Arg
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

12-27800782-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800782
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800782
    reference: chr 12
allele count: 1
allele frequency: 8.351149118118652e-6
allele num: 119744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+7G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+7G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1701G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.478G>A
  hgvsp: ENSP00000444046.1:p.Ala160Thr
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+7G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+7G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+7G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+7G>A
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala160Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-27800785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800785
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800785
    reference: chr 12
allele count: 1
allele frequency: 8.362462577979963e-6
allele num: 119582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.481G>A
  hgvsp: ENSP00000444046.1:p.Glu161Lys
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+10G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1704G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+10G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+10G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+10G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+10G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+10G>A
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13285
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu161Lys
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

12-27800787-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800787
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800787
    reference: chr 12
allele count: 56
allele frequency: 4.701536394929057e-4
allele num: 119110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+12G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+12G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.483G>C
  hgvsp: ENSP00000444046.1:p.Glu161Asp
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1706G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+12G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+12G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+12G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+12G>C
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 29313
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13204
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41063
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu161Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-27800789-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800789
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800789
    reference: chr 12
allele count: 1
allele frequency: 8.397010664203544e-6
allele num: 119090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1708C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+14C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.485C>T
  hgvsp: ENSP00000444046.1:p.Ala162Val
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+14C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+14C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+14C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+14C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+14C>T
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala162Val
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

12-27800790-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800790
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800790
    reference: chr 12
allele count: 2
allele frequency: 1.681124335955887e-5
allele num: 118968
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+15C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+15C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.486C>T
  hgvsp: ENST00000535047.1:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+15C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+15C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1709C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+15C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+15C>T
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala162Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

12-27800792-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800792
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800792
    reference: chr 12
allele count: 17
allele frequency: 1.434236058381844e-4
allele num: 118530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1711G>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+17G>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+17G>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.488G>T
  hgvsp: ENSP00000444046.1:p.Arg163Ile
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+17G>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+17G>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+17G>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+17G>T
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg163Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-27800794-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800794
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800794
    reference: chr 12
allele count: 1
allele frequency: 8.451799388089724e-6
allele num: 118318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1713A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+19A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.490A>G
  hgvsp: ENSP00000444046.1:p.Thr164Ala
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+19A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+19A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+19A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+19A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+19A>G
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr164Ala
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-27800794-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800794
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800794
    reference: chr 12
allele count: 17
allele frequency: 1.436805895975253e-4
allele num: 118318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+19A>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+19A>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.490A>T
  hgvsp: ENSP00000444046.1:p.Thr164Ser
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+19A>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+19A>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+19A>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+19A>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1713A>T
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr164Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

12-27800796-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800796
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800796
    reference: chr 12
allele count: 1
allele frequency: 8.475007203756124e-6
allele num: 117994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1715C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+21C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+21C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.492C>T
  hgvsp: ENST00000535047.1:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+21C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+21C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+21C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+21C>T
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7622
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr164Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

12-27800812-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800812
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800812
    reference: chr 12
allele count: 1
allele frequency: 8.790899660671274e-6
allele num: 113754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+37T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.508T>C
  hgvsp: ENSP00000444046.1:p.Cys170Arg
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+37T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+37T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+37T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+37T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1731T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+37T>C
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36245
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys170Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

12-27800820-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800820
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800820
    reference: chr 12
allele count: 2
allele frequency: 1.796654629080652e-5
allele num: 111318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.*3T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1739T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+45T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+45T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+45T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+45T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+45T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+45T>C
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25237
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-27800823-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800823
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800823
    reference: chr 12
allele count: 3
allele frequency: 2.735878308132854e-5
allele num: 109654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+48G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+48G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+48G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+48G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+48G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.*6G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1742G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+48G>C
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9503
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5698
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

12-27800823-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800823
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800823
    reference: chr 12
allele count: 20
allele frequency: 1.82391887208857e-4
allele num: 109654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1742G>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+48G>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+48G>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+48G>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+48G>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+48G>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+48G>T
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24260
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7868
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9503
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

12-27800842-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800842
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800842
    reference: chr 12
allele count: 1
allele frequency: 9.837291203494206e-6
allele num: 101654
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+67T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.*25T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+67T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+67T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+67T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1761T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+67T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+67T>C
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19670
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

12-27800852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800852
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800852
    reference: chr 12
allele count: 3
allele frequency: 3.075535143114902e-5
allele num: 97544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+77G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+77G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+77G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+77G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+77G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1771G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+77G>A
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4592
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14663
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4114
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-27800855-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800855
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800855
    reference: chr 12
allele count: 1
allele frequency: 1.04773479736809e-5
allele num: 95444
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+80C>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+80C>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+80C>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+80C>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.*38C>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1774C>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+80C>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+80C>G
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16604
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4090
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

12-27800857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800857
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800857
    reference: chr 12
allele count: 75
allele frequency: 7.966688619319751e-4
allele num: 94142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+82G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+82G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+82G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1776G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+82G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+82G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.*40G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+82G>A
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16177
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13313
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5869
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7013
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4206
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

12-27800866-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27800866
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27800866
    reference: chr 12
allele count: 1
allele frequency: 1.12617685481328e-5
allele num: 88796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.12+91G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.471+91G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444046
  ensembl transcript: ENST00000535047
  gene symbol: PPFIBP1
  hgvsc: ENST00000535047.1:c.*49G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-46+1785G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.471+91G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.471+91G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.12+91G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.471+91G>C
  variant of: http://identifiers.org/hgnc/9249
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12741
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4778
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

12-27802894-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27802894
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27802894
    reference: chr 12
allele count: 1
allele frequency: 9.069472156720479e-6
allele num: 110260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.472-49C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-45-49C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.13-49C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.472-49C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.13-49C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.472-49C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.472-49C>T
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12984
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4205
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

12-27802895-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27802895
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27802894
    reference: chr 12
allele count: 1
allele frequency: 9.056658455296334e-6
allele num: 110416
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.472-47delT
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.472-47delT
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.472-47delT
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-45-47delT
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.472-47delT
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.13-47delT
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.13-47delT
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5302
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: CT
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

12-27802902-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27802902
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27802902
    reference: chr 12
allele count: 1
allele frequency: 9.024782051513457e-6
allele num: 110806
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.13-41T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.13-41T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-45-41T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.472-41T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.472-41T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.472-41T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.472-41T>C
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18633
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-27802905-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27802905
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27802905
    reference: chr 12
allele count: 1
allele frequency: 9.015669233127175e-6
allele num: 110918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-45-38T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.13-38T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.472-38T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.13-38T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.472-38T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.472-38T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.472-38T>C
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

12-27802914-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27802914
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27802914
    reference: chr 12
allele count: 1
allele frequency: 8.961697704013048e-6
allele num: 111586
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.472-29T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.472-29T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-45-29T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.13-29T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.13-29T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.472-29T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.472-29T>C
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28394
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

12-27802930-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27802930
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27802930
    reference: chr 12
allele count: 1
allele frequency: 8.709739230407442e-6
allele num: 114814
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-45-13T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.472-13T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.472-13T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.472-13T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.472-13T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.13-13T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.13-13T>C
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3808
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-27802932-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27802932
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27802932
    reference: chr 12
allele count: 7676
allele frequency: 6.640253291579438e-2
allele num: 115598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-45-11A>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.472-11A>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.13-11A>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.472-11A>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.472-11A>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.13-11A>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.472-11A>C
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 3.25e1
  variant carriers: 962
genotype depth: GenotypeDepth
  all individuals: 28988
  bin: 2.25e1
  variant carriers: 525
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 11387
  bin: 2.75e1
  variant carriers: 827
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.25e1
  variant carriers: 905
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.75e1
  variant carriers: 341
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.25e1
  variant carriers: 504
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.75e1
  variant carriers: 732
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.25e1
  variant carriers: 234
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 1.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 333
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 3.75e1
  variant carriers: 1041
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 32835
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 7.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5683
  bin: 6.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 344
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-27802945-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27802945
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27802945
    reference: chr 12
allele count: 1
allele frequency: 8.456802652053312e-6
allele num: 118248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.474G>C
  hgvsp: ENSP00000445822.1:p.Glu158Asp
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.474G>C
  hgvsp: ENSP00000228425.6:p.Glu158Asp
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-43G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.474G>C
  hgvsp: ENSP00000314724.8:p.Glu158Asp
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.15G>C
  hgvsp: ENSP00000442462.1:p.Glu5Asp
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.15G>C
  hgvsp: ENSP00000445425.1:p.Glu5Asp
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.474G>C
  hgvsp: ENSP00000443442.1:p.Glu158Asp
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13358
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu158Asp
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

12-27802946-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27802946
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27802947
    reference: chr 12
allele count: 1
allele frequency: 8.447943770486263e-6
allele num: 118372
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.477dupT
  hgvsp: ENSP00000445822.1:p.Leu160SerfsTer3
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-40dupT
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.477dupT
  hgvsp: ENSP00000443442.1:p.Leu160SerfsTer3
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.18dupT
  hgvsp: ENSP00000445425.1:p.Leu7SerfsTer3
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.477dupT
  hgvsp: ENSP00000228425.6:p.Leu160SerfsTer3
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.18dupT
  hgvsp: ENSP00000442462.1:p.Leu7SerfsTer3
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.477dupT
  hgvsp: ENSP00000314724.8:p.Leu160SerfsTer3
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu160SerfsTer3
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

12-27802956-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27802956
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27802956
    reference: chr 12
allele count: 1
allele frequency: 8.34306691139663e-6
allele num: 119860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.26G>A
  hgvsp: ENSP00000442462.1:p.Arg9Lys
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.485G>A
  hgvsp: ENSP00000445822.1:p.Arg162Lys
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-32G>A
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.485G>A
  hgvsp: ENSP00000228425.6:p.Arg162Lys
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.26G>A
  hgvsp: ENSP00000445425.1:p.Arg9Lys
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.485G>A
  hgvsp: ENSP00000443442.1:p.Arg162Lys
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.485G>A
  hgvsp: ENSP00000314724.8:p.Arg162Lys
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3757
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg162Lys
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

12-27802958-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27802958
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27802958
    reference: chr 12
allele count: 4
allele frequency: 3.333555570371358e-5
allele num: 119992
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-30A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.487A>G
  hgvsp: ENSP00000443442.1:p.Thr163Ala
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.28A>G
  hgvsp: ENSP00000442462.1:p.Thr10Ala
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.487A>G
  hgvsp: ENSP00000445822.1:p.Thr163Ala
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.487A>G
  hgvsp: ENSP00000228425.6:p.Thr163Ala
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.487A>G
  hgvsp: ENSP00000314724.8:p.Thr163Ala
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.28A>G
  hgvsp: ENSP00000445425.1:p.Thr10Ala
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7434
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3762
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr163Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

12-27802971-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27802971
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27802971
    reference: chr 12
allele count: 1
allele frequency: 8.294487483618387e-6
allele num: 120562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.41C>T
  hgvsp: ENSP00000442462.1:p.Thr14Ile
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.500C>T
  hgvsp: ENSP00000228425.6:p.Thr167Ile
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.500C>T
  hgvsp: ENSP00000443442.1:p.Thr167Ile
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.500C>T
  hgvsp: ENSP00000445822.1:p.Thr167Ile
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.500C>T
  hgvsp: ENSP00000314724.8:p.Thr167Ile
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.41C>T
  hgvsp: ENSP00000445425.1:p.Thr14Ile
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr167Ile
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

12-27802973-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27802973
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27802973
    reference: chr 12
allele count: 2
allele frequency: 1.657824933687002e-5
allele num: 120640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.502C>G
  hgvsp: ENSP00000443442.1:p.Gln168Glu
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.502C>G
  hgvsp: ENSP00000228425.6:p.Gln168Glu
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.43C>G
  hgvsp: ENSP00000442462.1:p.Gln15Glu
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-15C>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.43C>G
  hgvsp: ENSP00000445425.1:p.Gln15Glu
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.502C>G
  hgvsp: ENSP00000445822.1:p.Gln168Glu
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.502C>G
  hgvsp: ENSP00000314724.8:p.Gln168Glu
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln168Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-27802975-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27802975
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27802975
    reference: chr 12
allele count: 44
allele frequency: 3.644858264716115e-4
allele num: 120718
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.504G>C
  hgvsp: ENSP00000314724.8:p.Gln168His
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.45G>C
  hgvsp: ENSP00000445425.1:p.Gln15His
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.504G>C
  hgvsp: ENSP00000445822.1:p.Gln168His
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.504G>C
  hgvsp: ENSP00000443442.1:p.Gln168His
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.504G>C
  hgvsp: ENSP00000228425.6:p.Gln168His
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.45G>C
  hgvsp: ENSP00000442462.1:p.Gln15His
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-13G>C
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32361
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14350
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln168His
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

12-27802984-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27802984
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27802984
    reference: chr 12
allele count: 1
allele frequency: 8.275131574592036e-6
allele num: 120844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.513T>C
  hgvsp: ENST00000228425.6:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000442462
  ensembl transcript: ENST00000538433
  gene symbol: PPFIBP1
  hgvsc: ENST00000538433.1:c.54T>C
  hgvsp: ENST00000538433.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.513T>C
  hgvsp: ENST00000545381.1:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.-4T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.54T>C
  hgvsp: ENST00000537927.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.513T>C
  hgvsp: ENST00000542629.1:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.513T>C
  hgvsp: ENST00000318304.8:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp171Asp
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/12-27802995-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27802995
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27802995
    reference: chr 12
allele count: 1
allele frequency: 8.27034090345204e-6
allele num: 120914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.524A>C
  hgvsp: ENSP00000445822.1:p.Glu175Ala
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.524A>C
  hgvsp: ENSP00000228425.6:p.Glu175Ala
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.8A>C
  hgvsp: ENSP00000444304.1:p.Glu3Ala
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.65A>C
  hgvsp: ENSP00000445425.1:p.Glu22Ala
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.524A>C
  hgvsp: ENSP00000314724.8:p.Glu175Ala
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.524A>C
  hgvsp: ENSP00000443442.1:p.Glu175Ala
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu175Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-27803003-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803003
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803003
    reference: chr 12
allele count: 1
allele frequency: 8.269930532583527e-6
allele num: 120920
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.532A>G
  hgvsp: ENSP00000445822.1:p.Asn178Asp
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.532A>G
  hgvsp: ENSP00000314724.8:p.Asn178Asp
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.73A>G
  hgvsp: ENSP00000445425.1:p.Asn25Asp
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.16A>G
  hgvsp: ENSP00000444304.1:p.Asn6Asp
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.532A>G
  hgvsp: ENSP00000443442.1:p.Asn178Asp
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.532A>G
  hgvsp: ENSP00000228425.6:p.Asn178Asp
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41021
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn178Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

12-27803005-CTTGAAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803005
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27802999
    reference: chr 12
allele count: 1
allele frequency: 8.27034090345204e-6
allele num: 120914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.540_545delGTTGAA
  hgvsp: ENSP00000443442.1:p.Lys182_Leu183del
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.540_545delGTTGAA
  hgvsp: ENSP00000445822.1:p.Lys182_Leu183del
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.24_29delGTTGAA
  hgvsp: ENSP00000444304.1:p.Lys10_Leu11del
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.81_86delGTTGAA
  hgvsp: ENSP00000445425.1:p.Lys29_Leu30del
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.540_545delGTTGAA
  hgvsp: ENSP00000228425.6:p.Lys182_Leu183del
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.540_545delGTTGAA
  hgvsp: ENSP00000314724.8:p.Lys182_Leu183del
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys182_Leu183del
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: CTTGAAG
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

12-27803006-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803006
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803006
    reference: chr 12
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.535T>A
  hgvsp: ENSP00000445822.1:p.Leu179Met
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.19T>A
  hgvsp: ENSP00000444304.1:p.Leu7Met
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.535T>A
  hgvsp: ENSP00000228425.6:p.Leu179Met
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.535T>A
  hgvsp: ENSP00000443442.1:p.Leu179Met
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.535T>A
  hgvsp: ENSP00000314724.8:p.Leu179Met
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.76T>A
  hgvsp: ENSP00000445425.1:p.Leu26Met
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu179Met
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

12-27803018-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803018
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803018
    reference: chr 12
allele count: 5
allele frequency: 4.135717712451819e-5
allele num: 120898
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.547C>T
  hgvsp: ENST00000318304.8:c.547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.31C>T
  hgvsp: ENST00000540114.1:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.547C>T
  hgvsp: ENST00000228425.6:c.547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.547C>T
  hgvsp: ENST00000542629.1:c.547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.547C>T
  hgvsp: ENST00000545381.1:c.547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.88C>T
  hgvsp: ENST00000537927.1:c.88C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu183Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

12-27803027-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803027
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803027
    reference: chr 12
allele count: 1
allele frequency: 8.277049397430804e-6
allele num: 120816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.97G>A
  hgvsp: ENSP00000445425.1:p.Val33Ile
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.556G>A
  hgvsp: ENSP00000228425.6:p.Val186Ile
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.556G>A
  hgvsp: ENSP00000443442.1:p.Val186Ile
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.556G>A
  hgvsp: ENSP00000314724.8:p.Val186Ile
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.556G>A
  hgvsp: ENSP00000445822.1:p.Val186Ile
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.40G>A
  hgvsp: ENSP00000444304.1:p.Val14Ile
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val186Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

12-27803030-GAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803030
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803027
    reference: chr 12
allele count: 2
allele frequency: 1.656287266463495e-5
allele num: 120752
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.562_564delAAG
  hgvsp: ENSP00000314724.8:p.Lys188del
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.46_48delAAG
  hgvsp: ENSP00000444304.1:p.Lys16del
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.562_564delAAG
  hgvsp: ENSP00000228425.6:p.Lys188del
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.562_564delAAG
  hgvsp: ENSP00000445822.1:p.Lys188del
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.103_105delAAG
  hgvsp: ENSP00000445425.1:p.Lys35del
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.562_564delAAG
  hgvsp: ENSP00000443442.1:p.Lys188del
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31753
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7536
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys188del
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: GAGA
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-27803035-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803035
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803035
    reference: chr 12
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.564G>A
  hgvsp: ENST00000228425.6:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.564G>A
  hgvsp: ENST00000542629.1:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.105G>A
  hgvsp: ENST00000537927.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.564G>A
  hgvsp: ENST00000545381.1:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.48G>A
  hgvsp: ENST00000540114.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.564G>A
  hgvsp: ENST00000318304.8:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys188Lys
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

12-27803042-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803042
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803042
    reference: chr 12
allele count: 4
allele frequency: 3.31796011811938e-5
allele num: 120556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.571T>C
  hgvsp: ENST00000545381.1:c.571T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.571T>C
  hgvsp: ENST00000318304.8:c.571T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.55T>C
  hgvsp: ENST00000540114.1:c.55T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.571T>C
  hgvsp: ENST00000228425.6:c.571T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.112T>C
  hgvsp: ENST00000537927.1:c.112T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.571T>C
  hgvsp: ENST00000542629.1:c.571T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31365
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu191Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-27803045-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803045
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803045
    reference: chr 12
allele count: 1
allele frequency: 8.304820117596252e-6
allele num: 120412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.574G>T
  hgvsp: ENSP00000314724.8:p.Asp192Tyr
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.574G>T
  hgvsp: ENSP00000228425.6:p.Asp192Tyr
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.115G>T
  hgvsp: ENSP00000445425.1:p.Asp39Tyr
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.574G>T
  hgvsp: ENSP00000443442.1:p.Asp192Tyr
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.574G>T
  hgvsp: ENSP00000445822.1:p.Asp192Tyr
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.58G>T
  hgvsp: ENSP00000444304.1:p.Asp20Tyr
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp192Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

12-27803050-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803050
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803050
    reference: chr 12
allele count: 1
allele frequency: 8.311722853913159e-6
allele num: 120312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.579T>C
  hgvsp: ENST00000542629.1:c.579T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.579T>C
  hgvsp: ENST00000318304.8:c.579T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.579T>C
  hgvsp: ENST00000228425.6:c.579T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.63T>C
  hgvsp: ENST00000540114.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.579T>C
  hgvsp: ENST00000545381.1:c.579T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.120T>C
  hgvsp: ENST00000537927.1:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr193Tyr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

12-27803054-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803054
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803054
    reference: chr 12
allele count: 2
allele frequency: 1.664863065012903e-5
allele num: 120130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.67G>C
  hgvsp: ENSP00000444304.1:p.Asp23His
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.583G>C
  hgvsp: ENSP00000443442.1:p.Asp195His
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.583G>C
  hgvsp: ENSP00000228425.6:p.Asp195His
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.583G>C
  hgvsp: ENSP00000445822.1:p.Asp195His
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.583G>C
  hgvsp: ENSP00000314724.8:p.Asp195His
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.124G>C
  hgvsp: ENSP00000445425.1:p.Asp42His
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7370
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp195His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

12-27803062-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803062
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803062
    reference: chr 12
allele count: 1
allele frequency: 8.34640937468701e-6
allele num: 119812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.591C>T
  hgvsp: ENST00000545381.1:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.591C>T
  hgvsp: ENST00000318304.8:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.132C>T
  hgvsp: ENST00000537927.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.591C>T
  hgvsp: ENST00000542629.1:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.75C>T
  hgvsp: ENST00000540114.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.591C>T
  hgvsp: ENST00000228425.6:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe197Phe
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: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-27803063-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803063
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803063
    reference: chr 12
allele count: 2
allele frequency: 1.668947561667613e-5
allele num: 119836
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.76A>G
  hgvsp: ENSP00000444304.1:p.Arg26Gly
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.592A>G
  hgvsp: ENSP00000228425.6:p.Arg198Gly
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.592A>G
  hgvsp: ENSP00000443442.1:p.Arg198Gly
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.133A>G
  hgvsp: ENSP00000445425.1:p.Arg45Gly
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.592A>G
  hgvsp: ENSP00000314724.8:p.Arg198Gly
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.592A>G
  hgvsp: ENSP00000445822.1:p.Arg198Gly
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg198Gly
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-27803067-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803067
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803067
    reference: chr 12
allele count: 1
allele frequency: 8.350172848577966e-6
allele num: 119758
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.596A>G
  hgvsp: ENSP00000314724.8:p.Asp199Gly
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.80A>G
  hgvsp: ENSP00000444304.1:p.Asp27Gly
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.137A>G
  hgvsp: ENSP00000445425.1:p.Asp46Gly
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.596A>G
  hgvsp: ENSP00000445822.1:p.Asp199Gly
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.596A>G
  hgvsp: ENSP00000228425.6:p.Asp199Gly
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.596A>G
  hgvsp: ENSP00000443442.1:p.Asp199Gly
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29026
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37641
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp199Gly
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-27803070-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803070
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803070
    reference: chr 12
allele count: 1
allele frequency: 8.368480953337351e-6
allele num: 119496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.599C>T
  hgvsp: ENSP00000443442.1:p.Thr200Ile
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.599C>T
  hgvsp: ENSP00000445822.1:p.Thr200Ile
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.599C>T
  hgvsp: ENSP00000228425.6:p.Thr200Ile
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.599C>T
  hgvsp: ENSP00000314724.8:p.Thr200Ile
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.140C>T
  hgvsp: ENSP00000445425.1:p.Thr47Ile
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.83C>T
  hgvsp: ENSP00000444304.1:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7234
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr200Ile
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

12-27803077-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803077
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803077
    reference: chr 12
allele count: 1
allele frequency: 8.409297319116015e-6
allele num: 118916
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.144+3G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.87+3G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.603+3G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.603+3G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.603+3G>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.603+3G>C
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 9.75e1
  variant carriers: 1
hgvs: c.603+3G>C
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-27803078-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803078
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803078
    reference: chr 12
allele count: 16
allele frequency: 1.348572199184114e-4
allele num: 118644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.87+4A>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.603+4A>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.603+4A>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.603+4A>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.603+4A>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.144+4A>T
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25396
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 33159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4287
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7007
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
hgvs: c.603+4A>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

12-27803083-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803083
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803083
    reference: chr 12
allele count: 16
allele frequency: 1.356622011192132e-4
allele num: 117940
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.603+9T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.603+9T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.603+9T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.87+9T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.144+9T>C
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.603+9T>C
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12982
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23996
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5105
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6801
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

12-27803083-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803083
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803083
    reference: chr 12
allele count: 1
allele frequency: 8.478887569950822e-6
allele num: 117940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.603+9T>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.144+9T>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.603+9T>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.603+9T>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.603+9T>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.87+9T>G
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6801
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

12-27803084-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803084
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803084
    reference: chr 12
allele count: 1
allele frequency: 8.460809530255856e-6
allele num: 118192
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.603+10A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.603+10A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.144+10A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.603+10A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.87+10A>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.603+10A>G
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-27803085-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803085
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803085
    reference: chr 12
allele count: 1
allele frequency: 8.477162524159914e-6
allele num: 117964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.603+11C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.603+11C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.87+11C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.603+11C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.603+11C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.144+11C>T
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3771
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

12-27803093-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803093
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803093
    reference: chr 12
allele count: 1
allele frequency: 8.584280465611372e-6
allele num: 116492
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.87+19C>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.603+19C>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.603+19C>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.603+19C>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.603+19C>G
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.144+19C>G
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20360
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3771
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6963
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

12-27803095-TCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803095
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803093
    reference: chr 12
allele count: 1
allele frequency: 8.687342541916429e-6
allele num: 115110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.603+23_603+24delCC
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.144+23_144+24delCC
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.603+23_603+24delCC
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.603+23_603+24delCC
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.603+23_603+24delCC
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.87+23_87+24delCC
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3764
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: TCC
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-27803096-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803096
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803096
    reference: chr 12
allele count: 2
allele frequency: 1.728668233992532e-5
allele num: 115696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.603+22C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.144+22C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.603+22C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.603+22C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.603+22C>T
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.87+22C>T
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3771
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3844
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20986
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-27803097-C-CCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27803097
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 27803099
    reference: chr 12
allele count: 38
allele frequency: 4.105267706667819e-4
allele num: 92564
alternate allele: CCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445822
  ensembl transcript: ENST00000545381
  gene symbol: PPFIBP1
  hgvsc: ENST00000545381.1:c.603+38_603+39dupCT
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000314724
  ensembl transcript: ENST00000318304
  gene symbol: PPFIBP1
  hgvsc: ENST00000318304.8:c.603+38_603+39dupCT
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000228425
  ensembl transcript: ENST00000228425
  gene symbol: PPFIBP1
  hgvsc: ENST00000228425.6:c.603+38_603+39dupCT
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000444304
  ensembl transcript: ENST00000540114
  gene symbol: PPFIBP1
  hgvsc: ENST00000540114.1:c.87+38_87+39dupCT
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000443442
  ensembl transcript: ENST00000542629
  gene symbol: PPFIBP1
  hgvsc: ENST00000542629.1:c.603+38_603+39dupCT
  variant of: http://identifiers.org/hgnc/9249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110841
  ensembl protein: ENSP00000445425
  ensembl transcript: ENST00000537927
  gene symbol: PPFIBP1
  hgvsc: ENST00000537927.1:c.144+38_144+39dupCT
  variant of: http://identifiers.org/hgnc/9249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12271
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10735
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: C

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

GenotypeQuality
all individuals: 284
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 357
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54598
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3789
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.378e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.07e0

VQSLOD
type: SiteQuality
SIO_000300: -2.568e0

QD
type: SiteQuality
SIO_000300: 1.406e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.296e0

DP
type: SiteQuality
SIO_000300: 5.610203e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

MQ
type: SiteQuality
SIO_000300: 5.872e1

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

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54599
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 296
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 5.611483e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.176e0

QD
type: SiteQuality
SIO_000300: 1.528e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

GenotypeQuality
all individuals: 3778
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54599
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.559721802237678e-4
allele num: 6614
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-1

MQ
type: SiteQuality
SIO_000300: 5.791e1

FS
type: SiteQuality
SIO_000300: 2.325e0

DP
type: SiteQuality
SIO_000300: 5.611886e6

VQSLOD
type: SiteQuality
SIO_000300: -7.71e-1

QD
type: SiteQuality
SIO_000300: 1.407e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 54600
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 109
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

DP
type: SiteQuality
SIO_000300: 5.61204e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.806e0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 1.239e1

MQ
type: SiteQuality
SIO_000300: 5.777e1

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

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

GenotypeQuality
all individuals: 735
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54600
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 299
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

QD
type: SiteQuality
SIO_000300: 1.53e1

MQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.654e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

FS
type: SiteQuality
SIO_000300: 3.523e0

DP
type: SiteQuality
SIO_000300: 5.612259e6

GenotypeQuality
all individuals: 183
bin: 7.75e1
variant carriers: 183

GenotypeQuality
all individuals: 280
bin: 9.25e1
variant carriers: 280

GenotypeQuality
all individuals: 74
bin: 7.25e1
variant carriers: 74

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

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 24

GenotypeQuality
all individuals: 59460
bin: 9.75e1
variant carriers: 59460

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 46

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

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

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 39

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 108

GenotypeQuality
all individuals: 212
bin: 8.25e1
variant carriers: 212

GenotypeQuality
all individuals: 123
bin: 6.75e1
variant carriers: 122

East Asian
type: Population
allele count: 8644
allele frequency: 9.993063583815028e-1
allele num: 8650
num of homozygotes: 4319

Other
type: Population
allele count: 905
allele frequency: 9.966960352422908e-1
allele num: 908
num of homozygotes: 451

European (Non-Finnish)
type: Population
allele count: 66601
allele frequency: 9.980369238146616e-1
allele num: 66732
num of homozygotes: 33235

Latino
type: Population
allele count: 11549
allele frequency: 9.974952496113318e-1
allele num: 11578
num of homozygotes: 5761

European (Finnish)
type: Population
allele count: 6614
allele frequency: 1.0e0
allele num: 6614
num of homozygotes: 3307

African
type: Population
allele count: 10260
allele frequency: 9.859696329040938e-1
allele num: 10406
num of homozygotes: 5057

South Asian
type: Population
allele count: 16478
allele frequency: 9.981826992973104e-1
allele num: 16508
num of homozygotes: 8224

MQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

MQ
type: SiteQuality
SIO_000300: 5.788e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

QD
type: SiteQuality
SIO_000300: 3.404e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

DP
type: SiteQuality
SIO_000300: 8.527428e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: -4.998e-1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41846
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

African
type: Population
allele count: 7
allele frequency: 6.726888333653661e-4
allele num: 10406
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

QD
type: SiteQuality
SIO_000300: 1.381e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

DP
type: SiteQuality
SIO_000300: 2.071334e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.478e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-1

GenotypeQuality
all individuals: 463
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 878
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8074
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5387
bin: 9.75e1
variant carriers: 5

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.506605813115542e-5
allele num: 66608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16254
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-2

FS
type: SiteQuality
SIO_000300: 9.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.53e-1

MQ
type: SiteQuality
SIO_000300: 5.766e1

DP
type: SiteQuality
SIO_000300: 2.066384e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.879e0

QD
type: SiteQuality
SIO_000300: 1.424e1

GenotypeQuality
all individuals: 463
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8067
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41651
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1621
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5381
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 329
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.537205081669691e-4
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

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

African
type: Population
allele count: 3
allele frequency: 2.883506343713956e-4
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.801801801801802e-4
allele num: 66600
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e-1

DP
type: SiteQuality
SIO_000300: 2.065791e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.742e0

MQ
type: SiteQuality
SIO_000300: 5.685e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

GenotypeQuality
all individuals: 8027
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5523
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 329
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.766e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.114e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.6572e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

QD
type: SiteQuality
SIO_000300: 2.782e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

DP
type: SiteQuality
SIO_000300: 2.074304e6

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5497
bin: 9.75e1
variant carriers: 1222

GenotypeQuality
all individuals: 1596
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1652
bin: 7.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8028
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 8.25e1
variant carriers: 1

African
type: Population
allele count: 361
allele frequency: 3.47182150413541e-2
allele num: 10398
num of homozygotes: 10

European (Non-Finnish)
type: Population
allele count: 170
allele frequency: 2.553549433712861e-3
allele num: 66574
num of homozygotes: 0

South Asian
type: Population
allele count: 328
allele frequency: 2.029451800519738e-2
allele num: 16162
num of homozygotes: 4

Other
type: Population
allele count: 15
allele frequency: 1.666666666666667e-2
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 261
allele frequency: 3.029951242163919e-2
allele num: 8614
num of homozygotes: 1

Latino
type: Population
allele count: 91
allele frequency: 7.862450319682046e-3
allele num: 11574
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 15
allele frequency: 2.268602540834846e-3
allele num: 6612
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e-1

MQ
type: SiteQuality
SIO_000300: 5.765e1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.060336e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.36e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.487e0

GenotypeQuality
all individuals: 7969
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41989
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4348
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 456
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.524454477050414e-5
allele num: 66450
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15744
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.966987e6

MQ
type: SiteQuality
SIO_000300: 5.806e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 1.494e1

VQSLOD
type: SiteQuality
SIO_000300: -1.672e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.24e0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7961
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

MQ
type: SiteQuality
SIO_000300: 5.802e1

VQSLOD
type: SiteQuality
SIO_000300: -1.883e0

DP
type: SiteQuality
SIO_000300: 1.964664e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.26e0

QD
type: SiteQuality
SIO_000300: 1.144e1

GenotypeQuality
all individuals: 865
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7898
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4338
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15438
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508614187007815e-5
allele num: 66286
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.894e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 9.343999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -1.404e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.622e0

MQ
type: SiteQuality
SIO_000300: 5.655e1

DP
type: SiteQuality
SIO_000300: 1.955958e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.239e0

QD
type: SiteQuality
SIO_000300: 3.82e0

GenotypeQuality
all individuals: 449
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41299
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7864
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4335
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.526563111865292e-5
allele num: 15322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -8.03e-1

FS
type: SiteQuality
SIO_000300: 6.874e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.6e-1

DP
type: SiteQuality
SIO_000300: 1.951555e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.541e1

VQSLOD
type: SiteQuality
SIO_000300: -7.907e-1

QD
type: SiteQuality
SIO_000300: 1.677e1

GenotypeQuality
all individuals: 7834
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 218
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 215
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 319
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4259
bin: 9.75e1
variant carriers: 36

GenotypeQuality
all individuals: 429
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1806
bin: 2.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.135200974421437e-4
allele num: 6568
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.931993817619784e-4
allele num: 10352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 5.605211331616422e-4
allele num: 66010
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.319087191663369e-4
allele num: 15162
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.1547064305685e-4
allele num: 8584
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.605e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.79e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.397e0

DP
type: SiteQuality
SIO_000300: 1.946491e6

QD
type: SiteQuality
SIO_000300: 3.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.016e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.606e0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4249
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40938
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15016
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512767759893501e-5
allele num: 66104
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.715e0

VQSLOD
type: SiteQuality
SIO_000300: 7.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: -5.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.54e-1

FS
type: SiteQuality
SIO_000300: 4.48e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

QD
type: SiteQuality
SIO_000300: 1.437e1

DP
type: SiteQuality
SIO_000300: 1.937956e6

GenotypeQuality
all individuals: 829
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 242
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 152
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026817603971185e-5
allele num: 66076
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14934
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -5.907e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.02e-1

QD
type: SiteQuality
SIO_000300: 1.419e1

DP
type: SiteQuality
SIO_000300: 1.934956e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

FS
type: SiteQuality
SIO_000300: 7.914e0

MQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.5e0

MQ
type: SiteQuality
SIO_000300: 5.836e1

GenotypeQuality
all individuals: 282
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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
all individuals: 4220
bin: 9.75e1
variant carriers: 15

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.213739531496541e-4
allele num: 65912
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.359989120087039e-4
allele num: 14706
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.467406380027739e-4
allele num: 11536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.026634382566586e-4
allele num: 6608
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.947e1

VQSLOD
type: SiteQuality
SIO_000300: -3.139e0

FS
type: SiteQuality
SIO_000300: 2.964e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.458e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.793e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

DP
type: SiteQuality
SIO_000300: 1.926065e6

QD
type: SiteQuality
SIO_000300: 1.558e1

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
all individuals: 7668
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.854949273375377e-5
allele num: 14588
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65846
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

FS
type: SiteQuality
SIO_000300: 2.984e0

QD
type: SiteQuality
SIO_000300: 1.646e1

VQSLOD
type: SiteQuality
SIO_000300: -2.359e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 1.922087e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

MQRankSum
type: SiteQuality
SIO_000300: -4.952e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

MQ
type: SiteQuality
SIO_000300: 5.0e1

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 179
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
type: Population
allele count: 2
allele frequency: 1.370989854675075e-4
allele num: 14588
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 4
allele frequency: 3.469210754553339e-4
allele num: 11530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.026634382566586e-4
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.214956109710537e-4
allele num: 65846
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.646e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.359e0

MQRankSum
type: SiteQuality
SIO_000300: -4.952e0

DP
type: SiteQuality
SIO_000300: 1.922087e6

MQ
type: SiteQuality
SIO_000300: 5.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

FS
type: SiteQuality
SIO_000300: 2.984e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

GenotypeQuality
all individuals: 26
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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
all individuals: 90
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GenotypeQuality
all individuals: 4195
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variant carriers: 1

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.173708920187793e-4
allele num: 8520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14374
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.044e1

MQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.715e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

DP
type: SiteQuality
SIO_000300: 1.913938e6

GenotypeQuality
all individuals: 686
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1391
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566219771958401e-5
allele num: 63848
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.194e0

MQRankSum
type: SiteQuality
SIO_000300: -4.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.06e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.245e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.44e-1

DP
type: SiteQuality
SIO_000300: 1.824043e6

VQSLOD
type: SiteQuality
SIO_000300: 3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

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

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

Latino
type: Population
allele count: 1
allele frequency: 9.067827348567283e-5
allele num: 11028
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.203445447087777e-5
allele num: 12190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7942
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.098e1

DP
type: SiteQuality
SIO_000300: 1.768222e6

MQRankSum
type: SiteQuality
SIO_000300: 8.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.827e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e-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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bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7802
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.846213491858361e-5
allele num: 61904
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.375e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

FS
type: SiteQuality
SIO_000300: 2.187e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.274e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

DP
type: SiteQuality
SIO_000300: 1.727374e6

VQSLOD
type: SiteQuality
SIO_000300: -3.364e-1

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.776944947014733e-4
allele num: 61904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10778
num of homozygotes: 0

European (Finnish)
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allele count: 7
allele frequency: 1.080580426057425e-3
allele num: 6478
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.413259296651523e-5
allele num: 11886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 1
allele frequency: 1.219512195121951e-3
allele num: 820
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.274e0

DP
type: SiteQuality
SIO_000300: 1.727374e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

FS
type: SiteQuality
SIO_000300: 2.187e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.364e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.375e1

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

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

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

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.72962501729625e-5
allele num: 57816
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 5.379621991894703e-5
allele num: 55766
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African
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MQ
type: SiteQuality
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InbreedingCoeff
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DP
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.830295043561022e-5
allele num: 54636
num of homozygotes: 0

East Asian
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 5.698e1

FS
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 5.88e-1

GenotypeQuality
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variant carriers: 1

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.172974663747263e-2
allele num: 6394
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Other
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ClippingRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -8.699999999999999e-3

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.894e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6058
num of homozygotes: 0

Latino
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allele frequency: 1.263264274886306e-4
allele num: 7916
num of homozygotes: 0

South Asian
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51210
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.343e1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11128
num of homozygotes: 0

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

East Asian
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allele frequency: 1.263264274886306e-4
allele num: 7916
num of homozygotes: 0

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

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

FS
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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DP
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QD
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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East Asian
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African
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Latino
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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QD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Other
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South Asian
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East Asian
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European (Non-Finnish)
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Latino
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FS
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BaseQRankSum
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QD
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Other
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Latino
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African
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East Asian
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European (Non-Finnish)
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Other
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QD
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ClippingRankSum
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SIO_000300: -1.256e0

DP
type: SiteQuality
SIO_000300: 1.428138e6

VQSLOD
type: SiteQuality
SIO_000300: -1.909e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.534e1

GenotypeQuality
all individuals: 1205
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 579
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6486
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9916
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13958
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.213592233009709e-4
allele num: 8240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63954
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.519345e6

FS
type: SiteQuality
SIO_000300: 9.942e0

QD
type: SiteQuality
SIO_000300: 1.404e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

VQSLOD
type: SiteQuality
SIO_000300: -2.131e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.33e-1

MQ
type: SiteQuality
SIO_000300: 5.497e1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 10021
bin: 9.75e1
variant carriers: 7207

GenotypeQuality
all individuals: 206
bin: 5.75e1
variant carriers: 9

GenotypeQuality
all individuals: 592
bin: 9.25e1
variant carriers: 26

GenotypeQuality
all individuals: 109
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 1871
bin: 7.75e1
variant carriers: 12

GenotypeQuality
all individuals: 300
bin: 5.25e1
variant carriers: 9

GenotypeQuality
all individuals: 453
bin: 8.75e1
variant carriers: 13

GenotypeQuality
all individuals: 216
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1129
bin: 8.25e1
variant carriers: 20

European (Non-Finnish)
type: Population
allele count: 6355
allele frequency: 9.866174004843818e-2
allele num: 64412
num of homozygotes: 309

African
type: Population
allele count: 160
allele frequency: 1.609981887703763e-2
allele num: 9938
num of homozygotes: 1

South Asian
type: Population
allele count: 235
allele frequency: 1.657030038076435e-2
allele num: 14182
num of homozygotes: 7

East Asian
type: Population
allele count: 2
allele frequency: 2.41779497098646e-4
allele num: 8272
num of homozygotes: 0

Other
type: Population
allele count: 62
allele frequency: 7.126436781609195e-2
allele num: 870
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 490
allele frequency: 7.492354740061162e-2
allele num: 6540
num of homozygotes: 18

Latino
type: Population
allele count: 372
allele frequency: 3.267744202389318e-2
allele num: 11384
num of homozygotes: 8

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.11e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

QD
type: SiteQuality
SIO_000300: 1.682e1

MQ
type: SiteQuality
SIO_000300: 5.394e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.654925e6

VQSLOD
type: SiteQuality
SIO_000300: 8.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

GenotypeQuality
all individuals: 341
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1578
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3755
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7284
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38822
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525180733916969e-5
allele num: 65566
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.606e1

FS
type: SiteQuality
SIO_000300: 5.35e0

DP
type: SiteQuality
SIO_000300: 1.621489e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.262e0

MQ
type: SiteQuality
SIO_000300: 5.616e1

VQSLOD
type: SiteQuality
SIO_000300: -1.045e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.041e0

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

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7308
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2249
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38853
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3755
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 800
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15220
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524250830716703e-5
allele num: 65606
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.22e-1

MQ
type: SiteQuality
SIO_000300: 5.635e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

QD
type: SiteQuality
SIO_000300: 1.262e1

DP
type: SiteQuality
SIO_000300: 1.624367e6

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
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variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7412
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40312
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2276
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66152
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

DP
type: SiteQuality
SIO_000300: 1.643552e6

VQSLOD
type: SiteQuality
SIO_000300: -1.569e0

MQ
type: SiteQuality
SIO_000300: 5.278e1

FS
type: SiteQuality
SIO_000300: 5.816e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 1.413e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.828e0

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2484
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 2276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40286
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1528
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.531722054380665e-5
allele num: 66200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.604e0

MQ
type: SiteQuality
SIO_000300: 5.08e1

QD
type: SiteQuality
SIO_000300: 1.068e1

FS
type: SiteQuality
SIO_000300: 1.5576e1

DP
type: SiteQuality
SIO_000300: 1.646176e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.056e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e0

GenotypeQuality
all individuals: 40761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2293
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7498
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 633
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variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3757
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506387081224391e-5
allele num: 66384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.73e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 1.654069e6

FS
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.54e-1

MQ
type: SiteQuality
SIO_000300: 4.892e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.793e0

GenotypeQuality
all individuals: 7514
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 636
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variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 40825
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variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 2490
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1526
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 2296
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.225940909648155e-4
allele num: 16314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.284e1

QD
type: SiteQuality
SIO_000300: 1.531e1

VQSLOD
type: SiteQuality
SIO_000300: -6.176e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.045e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

DP
type: SiteQuality
SIO_000300: 1.65494e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7515
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
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variant carriers: 0

GenotypeQuality
all individuals: 3794
bin: 9.75e1
variant carriers: 44

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40900
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 42
allele frequency: 4.054836841089014e-3
allele num: 10358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.351e1

MQ
type: SiteQuality
SIO_000300: 4.909e1

DP
type: SiteQuality
SIO_000300: 1.65765e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.875e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

FS
type: SiteQuality
SIO_000300: 1.276e0

VQSLOD
type: SiteQuality
SIO_000300: -4.745e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.31e-1

GenotypeQuality
all individuals: 7544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1520
bin: 8.25e1
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GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66494
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.155e0

FS
type: SiteQuality
SIO_000300: 1.0761e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

DP
type: SiteQuality
SIO_000300: 1.65823e6

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.19e1

MQ
type: SiteQuality
SIO_000300: 4.797e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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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: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.659664e6

MQ
type: SiteQuality
SIO_000300: 5.147e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQRankSum
type: SiteQuality
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QD
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SIO_000300: 1.306e1

VQSLOD
type: SiteQuality
SIO_000300: -1.528e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.301e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.06e0

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

MQ
type: SiteQuality
SIO_000300: 3.701e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.542e0

DP
type: SiteQuality
SIO_000300: 1.659929e6

GenotypeQuality
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bin: 9.25e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503985561738607e-5
allele num: 66490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.227e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

FS
type: SiteQuality
SIO_000300: 1.8354e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.159e0

MQ
type: SiteQuality
SIO_000300: 4.473e1

DP
type: SiteQuality
SIO_000300: 1.659998e6

QD
type: SiteQuality
SIO_000300: 6.24e0

GenotypeQuality
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bin: 7.25e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3759
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.438e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

DP
type: SiteQuality
SIO_000300: 1.659825e6

QD
type: SiteQuality
SIO_000300: 1.381e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 4.063e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.007e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.95e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

GenotypeQuality
all individuals: 2484
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 352
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GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.846585594013096e-4
allele num: 8552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.659558e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.525e0

MQ
type: SiteQuality
SIO_000300: 4.334e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 5.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

QD
type: SiteQuality
SIO_000300: 8.609999999999999e0

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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GenotypeQuality
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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

South Asian
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allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.293e0

DP
type: SiteQuality
SIO_000300: 1.658311e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.134e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.31e-1

QD
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-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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variant carriers: 2

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506614035616356e-5
allele num: 66374
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.741e1

FS
type: SiteQuality
SIO_000300: 3.533e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

VQSLOD
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 6.0960741282614e-5
allele num: 16404
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8542
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66316
num of homozygotes: 0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.655383e6

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509570678099149e-5
allele num: 66244
num of homozygotes: 0

Other
type: Population
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East Asian
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African
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allele frequency: 9.641342074816814e-5
allele num: 10372
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South Asian
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allele frequency: 1.220554131575735e-4
allele num: 16386
num of homozygotes: 0

Latino
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQ
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DP
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1501
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1029
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2270
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66162
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.171783454417624e-4
allele num: 8534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.707e0

DP
type: SiteQuality
SIO_000300: 1.64866e6

FS
type: SiteQuality
SIO_000300: 4.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.351e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

QD
type: SiteQuality
SIO_000300: 8.94e0

MQRankSum
type: SiteQuality
SIO_000300: 2.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.156e1

GenotypeQuality
all individuals: 3760
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 227
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39534
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2448
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51290508033526e-5
allele num: 66098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

MQ
type: SiteQuality
SIO_000300: 5.246e1

FS
type: SiteQuality
SIO_000300: 3.429e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.016e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.038e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

DP
type: SiteQuality
SIO_000300: 1.645018e6

VQSLOD
type: SiteQuality
SIO_000300: -1.453e0

GenotypeQuality
all individuals: 798
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 1570
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38850
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variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.030211205721039e-5
allele num: 66002
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.341e-1

FS
type: SiteQuality
SIO_000300: 1.589e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

MQ
type: SiteQuality
SIO_000300: 4.573e1

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

DP
type: SiteQuality
SIO_000300: 1.639411e6

GenotypeQuality
all individuals: 532
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3758
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2428
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1495
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519433555170632e-5
allele num: 65814
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

MQ
type: SiteQuality
SIO_000300: 4.681e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.546e0

VQSLOD
type: SiteQuality
SIO_000300: -2.135e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.23e-1

FS
type: SiteQuality
SIO_000300: 2.623e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.075e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

DP
type: SiteQuality
SIO_000300: 1.628267e6

GenotypeQuality
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2238
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2234
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2427
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3759
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1493
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.933861922258751e-4
allele num: 10342
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65822
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16166
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.369e0

MQ
type: SiteQuality
SIO_000300: 4.88e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

FS
type: SiteQuality
SIO_000300: 8.387e0

DP
type: SiteQuality
SIO_000300: 1.627927e6

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

QD
type: SiteQuality
SIO_000300: 1.146e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 598
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7279
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
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variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3757
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520265134239411e-5
allele num: 65778
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.442e1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

DP
type: SiteQuality
SIO_000300: 1.624645e6

FS
type: SiteQuality
SIO_000300: 2.902e0

VQSLOD
type: SiteQuality
SIO_000300: -1.269e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

QD
type: SiteQuality
SIO_000300: 1.291e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.164e0

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

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2220
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2838
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3758
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 622
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177578897786152e-4
allele num: 8492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16062
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQ
type: SiteQuality
SIO_000300: 5.15e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: -1.33e0

QD
type: SiteQuality
SIO_000300: 1.269e1

FS
type: SiteQuality
SIO_000300: 4.585e0

DP
type: SiteQuality
SIO_000300: 1.617941e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

GenotypeQuality
all individuals: 7059
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531018433461939e-5
allele num: 65316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 3.208e1

VQSLOD
type: SiteQuality
SIO_000300: -7.693e-1

DP
type: SiteQuality
SIO_000300: 1.593071e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 6.051e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.79e0

MQ
type: SiteQuality
SIO_000300: 5.314e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 2367
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 808
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 624
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variant carriers: 3

GenotypeQuality
all individuals: 1518
bin: 3.25e1
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GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1471
bin: 8.25e1
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GenotypeQuality
all individuals: 1325
bin: 2.75e1
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GenotypeQuality
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532707988474036e-5
allele num: 65244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.539037704709915e-4
allele num: 15754
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.074428599335808e-3
allele num: 10238
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.57e-1

MQ
type: SiteQuality
SIO_000300: 5.219e1

QD
type: SiteQuality
SIO_000300: 5.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.438e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

FS
type: SiteQuality
SIO_000300: 6.472e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.472e0

DP
type: SiteQuality
SIO_000300: 1.593442e6

GenotypeQuality
all individuals: 141
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 3761
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2134
bin: 7.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 623
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variant carriers: 3

GenotypeQuality
all individuals: 2354
bin: 7.75e1
variant carriers: 1

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

African
type: Population
allele count: 11
allele frequency: 1.082038166437143e-3
allele num: 10166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.569703199280483e-4
allele num: 15566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541497101985448e-5
allele num: 64872
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.862e0

DP
type: SiteQuality
SIO_000300: 1.574106e6

MQRankSum
type: SiteQuality
SIO_000300: -2.459e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.183e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e0

FS
type: SiteQuality
SIO_000300: 4.2e0

MQ
type: SiteQuality
SIO_000300: 5.236e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

GenotypeQuality
all individuals: 261
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2090
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variant carriers: 0

GenotypeQuality
all individuals: 393
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GenotypeQuality
all individuals: 787
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variant carriers: 0

GenotypeQuality
all individuals: 1685
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variant carriers: 0

GenotypeQuality
all individuals: 1467
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GenotypeQuality
all individuals: 623
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.424257998201208e-5
allele num: 15566
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.183e0

VQSLOD
type: SiteQuality
SIO_000300: -3.862e0

QD
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 1.574106e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

MQ
type: SiteQuality
SIO_000300: 5.236e1

MQRankSum
type: SiteQuality
SIO_000300: -2.459e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e0

FS
type: SiteQuality
SIO_000300: 4.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

GenotypeQuality
all individuals: 790
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3772
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6875
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2227
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30351
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539645881447267e-5
allele num: 64950
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.88e-1

FS
type: SiteQuality
SIO_000300: 1.0684e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.567364e6

VQSLOD
type: SiteQuality
SIO_000300: -2.091e0

MQ
type: SiteQuality
SIO_000300: 5.203e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.23e-1

QD
type: SiteQuality
SIO_000300: 1.531e1

GenotypeQuality
all individuals: 187
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2361
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15586
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.342e0

MQ
type: SiteQuality
SIO_000300: 5.721e1

MQRankSum
type: SiteQuality
SIO_000300: -6.48e-1

QD
type: SiteQuality
SIO_000300: 1.055e1

VQSLOD
type: SiteQuality
SIO_000300: -1.703e0

DP
type: SiteQuality
SIO_000300: 1.564132e6

GenotypeQuality
all individuals: 2010
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2807
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5965
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559624442434262e-5
allele num: 64118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15126
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.529693e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.18e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

FS
type: SiteQuality
SIO_000300: 2.283e0

VQSLOD
type: SiteQuality
SIO_000300: -4.963e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.74e-1

MQ
type: SiteQuality
SIO_000300: 5.178e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.681e0

GenotypeQuality
all individuals: 20105
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3798
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.575051189163648e-5
allele num: 63490
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 2.706e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.392e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.195e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.52147e6

GenotypeQuality
all individuals: 303
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2731
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5583
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2244
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14852
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.933e0

DP
type: SiteQuality
SIO_000300: 1.521441e6

MQ
type: SiteQuality
SIO_000300: 5.132e1

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

QD
type: SiteQuality
SIO_000300: 9.83e0

FS
type: SiteQuality
SIO_000300: 9.709e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.713e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0