1-228509508-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509508
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509508
    reference: chr 1
allele count: 1
allele frequency: 8.402655239055541e-6
allele num: 119010
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17837G>T
  hgvsp: ENSP00000455507.2:p.Ser5946Ile
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.14966G>T
  hgvsp: ENSP00000284548.11:p.Ser4989Ile
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6323G>T
  hgvsp: ENSP00000355670.4:p.Ser2108Ile
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7868G>T
  hgvsp: ENSP00000355668.4:p.Ser2623Ile
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.14966G>T
  hgvsp: ENSP00000409493.1:p.Ser4989Ile
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser5946Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

1-228509527-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509527
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509527
    reference: chr 1
allele count: 3
allele frequency: 2.529510961214165e-5
allele num: 118600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7887C>T
  hgvsp: ENST00000366707.4:c.7887C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17856C>T
  hgvsp: ENST00000570156.2:c.17856C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6342C>T
  hgvsp: ENST00000366709.4:c.6342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.14985C>T
  hgvsp: ENST00000422127.1:c.14985C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.14985C>T
  hgvsp: ENST00000284548.11:c.14985C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 541
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genotype depth: GenotypeDepth
  all individuals: 28107
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9365
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genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
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genotype quality: GenotypeQuality
  all individuals: 3355
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 125
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genotype quality: GenotypeQuality
  all individuals: 241
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genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 507
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 299
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genotype quality: GenotypeQuality
  all individuals: 200
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genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 608
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala5952Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-228509533-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509533
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509533
    reference: chr 1
allele count: 4
allele frequency: 3.375926269770268e-5
allele num: 118486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.14991C>T
  hgvsp: ENST00000422127.1:c.14991C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7893C>T
  hgvsp: ENST00000366707.4:c.7893C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17862C>T
  hgvsp: ENST00000570156.2:c.17862C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6348C>T
  hgvsp: ENST00000366709.4:c.6348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.14991C>T
  hgvsp: ENST00000284548.11:c.14991C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13732
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 89
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 304
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genotype depth: GenotypeDepth
  all individuals: 47
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genotype quality: GenotypeQuality
  all individuals: 506
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 607
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 252
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genotype quality: GenotypeQuality
  all individuals: 91
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3353
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1197
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser5954Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-228509540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509540
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509540
    reference: chr 1
allele count: 1
allele frequency: 8.444662129068216e-6
allele num: 118418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7900G>A
  hgvsp: ENSP00000355668.4:p.Gly2634Arg
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6355G>A
  hgvsp: ENSP00000355670.4:p.Gly2119Arg
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17869G>A
  hgvsp: ENSP00000455507.2:p.Gly5957Arg
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.14998G>A
  hgvsp: ENSP00000284548.11:p.Gly5000Arg
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.14998G>A
  hgvsp: ENSP00000409493.1:p.Gly5000Arg
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1136
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genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
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genotype depth: GenotypeDepth
  all individuals: 1292
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly5957Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

1-228509544-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509544
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509544
    reference: chr 1
allele count: 1
allele frequency: 8.445803280349994e-6
allele num: 118402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6359G>A
  hgvsp: ENSP00000355670.4:p.Gly2120Asp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15002G>A
  hgvsp: ENSP00000284548.11:p.Gly5001Asp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17873G>A
  hgvsp: ENSP00000455507.2:p.Gly5958Asp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15002G>A
  hgvsp: ENSP00000409493.1:p.Gly5001Asp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7904G>A
  hgvsp: ENSP00000355668.4:p.Gly2635Asp
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39323
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly5958Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

1-228509554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509554
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509554
    reference: chr 1
allele count: 1
allele frequency: 8.478743789320174e-6
allele num: 117942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7914C>T
  hgvsp: ENST00000366707.4:c.7914C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15012C>T
  hgvsp: ENST00000422127.1:c.15012C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15012C>T
  hgvsp: ENST00000284548.11:c.15012C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17883C>T
  hgvsp: ENST00000570156.2:c.17883C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6369C>T
  hgvsp: ENST00000366709.4:c.6369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp5961Asp
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

1-228509555-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509555
    reference: chr 1
allele count: 64
allele frequency: 5.42326921447335e-4
allele num: 118010
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17884G>A
  hgvsp: ENSP00000455507.2:p.Asp5962Asn
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6370G>A
  hgvsp: ENSP00000355670.4:p.Asp2124Asn
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7915G>A
  hgvsp: ENSP00000355668.4:p.Asp2639Asn
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15013G>A
  hgvsp: ENSP00000409493.1:p.Asp5005Asn
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15013G>A
  hgvsp: ENSP00000284548.11:p.Asp5005Asn
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27892
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13547
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 9.75e1
  variant carriers: 64
hgvs: p.Asp5962Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-228509556-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509556
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509556
    reference: chr 1
allele count: 1
allele frequency: 8.471704506946798e-6
allele num: 118040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7916A>T
  hgvsp: ENSP00000355668.4:p.Asp2639Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15014A>T
  hgvsp: ENSP00000409493.1:p.Asp5005Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17885A>T
  hgvsp: ENSP00000455507.2:p.Asp5962Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15014A>T
  hgvsp: ENSP00000284548.11:p.Asp5005Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6371A>T
  hgvsp: ENSP00000355670.4:p.Asp2124Val
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3302
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp5962Val
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

1-228509558-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509558
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509558
    reference: chr 1
allele count: 1
allele frequency: 8.483203257550051e-6
allele num: 117880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15016G>A
  hgvsp: ENSP00000284548.11:p.Ala5006Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7918G>A
  hgvsp: ENSP00000355668.4:p.Ala2640Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15016G>A
  hgvsp: ENSP00000409493.1:p.Ala5006Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6373G>A
  hgvsp: ENSP00000355670.4:p.Ala2125Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17887G>A
  hgvsp: ENSP00000455507.2:p.Ala5963Thr
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala5963Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-228509564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509564
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509564
    reference: chr 1
allele count: 4
allele frequency: 3.397200706617747e-5
allele num: 117744
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17893C>T
  hgvsp: ENSP00000455507.2:p.Arg5965Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15022C>T
  hgvsp: ENSP00000409493.1:p.Arg5008Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7924C>T
  hgvsp: ENSP00000355668.4:p.Arg2642Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6379C>T
  hgvsp: ENSP00000355670.4:p.Arg2127Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15022C>T
  hgvsp: ENSP00000284548.11:p.Arg5008Cys
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg5965Cys
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

1-228509565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509565
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509565
    reference: chr 1
allele count: 3
allele frequency: 2.549286199864038e-5
allele num: 117680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6380G>A
  hgvsp: ENSP00000355670.4:p.Arg2127His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7925G>A
  hgvsp: ENSP00000355668.4:p.Arg2642His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15023G>A
  hgvsp: ENSP00000284548.11:p.Arg5008His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17894G>A
  hgvsp: ENSP00000455507.2:p.Arg5965His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15023G>A
  hgvsp: ENSP00000409493.1:p.Arg5008His
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg5965His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

1-228509566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509566
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509566
    reference: chr 1
allele count: 1
allele frequency: 8.507452528414892e-6
allele num: 117544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7926C>T
  hgvsp: ENST00000366707.4:c.7926C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15024C>T
  hgvsp: ENST00000284548.11:c.15024C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6381C>T
  hgvsp: ENST00000366709.4:c.6381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15024C>T
  hgvsp: ENST00000422127.1:c.15024C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17895C>T
  hgvsp: ENST00000570156.2:c.17895C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg5965Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

1-228509567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509567
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509567
    reference: chr 1
allele count: 6
allele frequency: 5.103950457654224e-5
allele num: 117556
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17896C>T
  hgvsp: ENSP00000455507.2:p.Arg5966Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15025C>T
  hgvsp: ENSP00000284548.11:p.Arg5009Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15025C>T
  hgvsp: ENSP00000409493.1:p.Arg5009Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6382C>T
  hgvsp: ENSP00000355670.4:p.Arg2128Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7927C>T
  hgvsp: ENSP00000355668.4:p.Arg2643Trp
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27838
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8068
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg5966Trp
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-228509576-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509576
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509576
    reference: chr 1
allele count: 1
allele frequency: 8.520790729379687e-6
allele num: 117360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6391C>T
  hgvsp: ENSP00000355670.4:p.Arg2131Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7936C>T
  hgvsp: ENSP00000355668.4:p.Arg2646Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15034C>T
  hgvsp: ENSP00000409493.1:p.Arg5012Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17905C>T
  hgvsp: ENSP00000455507.2:p.Arg5969Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15034C>T
  hgvsp: ENSP00000284548.11:p.Arg5012Cys
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg5969Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

1-228509577-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509577
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509577
    reference: chr 1
allele count: 9
allele frequency: 7.668973039299226e-5
allele num: 117356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15035G>A
  hgvsp: ENSP00000284548.11:p.Arg5012His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7937G>A
  hgvsp: ENSP00000355668.4:p.Arg2646His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15035G>A
  hgvsp: ENSP00000409493.1:p.Arg5012His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6392G>A
  hgvsp: ENSP00000355670.4:p.Arg2131His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17906G>A
  hgvsp: ENSP00000455507.2:p.Arg5969His
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg5969His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-228509579-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509579
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509579
    reference: chr 1
allele count: 5
allele frequency: 4.27701361801136e-5
allele num: 116904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6394C>T
  hgvsp: ENSP00000355670.4:p.Arg2132Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15037C>T
  hgvsp: ENSP00000284548.11:p.Arg5013Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15037C>T
  hgvsp: ENSP00000409493.1:p.Arg5013Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17908C>T
  hgvsp: ENSP00000455507.2:p.Arg5970Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7939C>T
  hgvsp: ENSP00000355668.4:p.Arg2647Trp
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27715
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7923
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg5970Trp
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

1-228509580-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509580
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509580
    reference: chr 1
allele count: 1
allele frequency: 8.543941491088669e-6
allele num: 117042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15038G>C
  hgvsp: ENSP00000409493.1:p.Arg5013Pro
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7940G>C
  hgvsp: ENSP00000355668.4:p.Arg2647Pro
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6395G>C
  hgvsp: ENSP00000355670.4:p.Arg2132Pro
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15038G>C
  hgvsp: ENSP00000284548.11:p.Arg5013Pro
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17909G>C
  hgvsp: ENSP00000455507.2:p.Arg5970Pro
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg5970Pro
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: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

1-228509582-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509582
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509582
    reference: chr 1
allele count: 1
allele frequency: 8.540001366400219e-6
allele num: 117096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6397C>G
  hgvsp: ENSP00000355670.4:p.Leu2133Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7942C>G
  hgvsp: ENSP00000355668.4:p.Leu2648Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15040C>G
  hgvsp: ENSP00000284548.11:p.Leu5014Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17911C>G
  hgvsp: ENSP00000455507.2:p.Leu5971Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15040C>G
  hgvsp: ENSP00000409493.1:p.Leu5014Val
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu5971Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

1-228509584-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509584
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509584
    reference: chr 1
allele count: 7
allele frequency: 5.978511521445775e-5
allele num: 117086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7944G>C
  hgvsp: ENST00000366707.4:c.7944G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6399G>C
  hgvsp: ENST00000366709.4:c.6399G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15042G>C
  hgvsp: ENST00000422127.1:c.15042G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15042G>C
  hgvsp: ENST00000284548.11:c.15042G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17913G>C
  hgvsp: ENST00000570156.2:c.17913G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu5971Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

1-228509588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509588
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509588
    reference: chr 1
allele count: 35
allele frequency: 2.992834299591264e-4
allele num: 116946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15046C>T
  hgvsp: ENSP00000284548.11:p.Arg5016Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15046C>T
  hgvsp: ENSP00000409493.1:p.Arg5016Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7948C>T
  hgvsp: ENSP00000355668.4:p.Arg2650Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17917C>T
  hgvsp: ENSP00000455507.2:p.Arg5973Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6403C>T
  hgvsp: ENSP00000355670.4:p.Arg2135Trp
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27688
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9010
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7880
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg5973Trp
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

1-228509589-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509589
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509589
    reference: chr 1
allele count: 1149
allele frequency: 9.817827602706952e-3
allele num: 117032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6404G>A
  hgvsp: ENSP00000355670.4:p.Arg2135Gln
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15047G>A
  hgvsp: ENSP00000409493.1:p.Arg5016Gln
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15047G>A
  hgvsp: ENSP00000284548.11:p.Arg5016Gln
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7949G>A
  hgvsp: ENSP00000355668.4:p.Arg2650Gln
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17918G>A
  hgvsp: ENSP00000455507.2:p.Arg5973Gln
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.25e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13581
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 3.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8956
  bin: 3.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 27651
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.25e1
  variant carriers: 127
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38492
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 2
hgvs: p.Arg5973Gln
num of homozygotes: 35
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

1-228509593-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509593
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509593
    reference: chr 1
allele count: 1
allele frequency: 8.547008547008548e-6
allele num: 117000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6408C>T
  hgvsp: ENST00000366709.4:c.6408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7953C>T
  hgvsp: ENST00000366707.4:c.7953C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15051C>T
  hgvsp: ENST00000422127.1:c.15051C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15051C>T
  hgvsp: ENST00000284548.11:c.15051C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17922C>T
  hgvsp: ENST00000570156.2:c.17922C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7980
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu5974Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-228509597-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509597
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509597
    reference: chr 1
allele count: 8
allele frequency: 6.84931506849315e-5
allele num: 116800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6412C>T
  hgvsp: ENSP00000355670.4:p.Arg2138Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7957C>T
  hgvsp: ENSP00000355668.4:p.Arg2653Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15055C>T
  hgvsp: ENSP00000409493.1:p.Arg5019Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17926C>T
  hgvsp: ENSP00000455507.2:p.Arg5976Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15055C>T
  hgvsp: ENSP00000284548.11:p.Arg5019Cys
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg5976Cys
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: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

1-228509598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509598
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509598
    reference: chr 1
allele count: 14
allele frequency: 1.199081845900853e-4
allele num: 116756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15056G>A
  hgvsp: ENSP00000284548.11:p.Arg5019His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17927G>A
  hgvsp: ENSP00000455507.2:p.Arg5976His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6413G>A
  hgvsp: ENSP00000355670.4:p.Arg2138His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7958G>A
  hgvsp: ENSP00000355668.4:p.Arg2653His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15056G>A
  hgvsp: ENSP00000409493.1:p.Arg5019His
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27988
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 39161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7926
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg5976His
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD

1-228509610-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509610
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509610
    reference: chr 1
allele count: 219
allele frequency: 1.891812511877818e-3
allele num: 115762
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17939C>T
  hgvsp: ENSP00000455507.2:p.Pro5980Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6425C>T
  hgvsp: ENSP00000355670.4:p.Pro2142Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7970C>T
  hgvsp: ENSP00000355668.4:p.Pro2657Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15068C>T
  hgvsp: ENSP00000409493.1:p.Pro5023Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15068C>T
  hgvsp: ENSP00000284548.11:p.Pro5023Leu
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 14185
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27248
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro5980Leu
num of homozygotes: 2
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

1-228509611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509611
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509611
    reference: chr 1
allele count: 3
allele frequency: 2.593674891497934e-5
allele num: 115666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7971G>A
  hgvsp: ENST00000366707.4:c.7971G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17940G>A
  hgvsp: ENST00000570156.2:c.17940G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15069G>A
  hgvsp: ENST00000284548.11:c.15069G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6426G>A
  hgvsp: ENST00000366709.4:c.6426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15069G>A
  hgvsp: ENST00000422127.1:c.15069G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro5980Pro
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

1-228509611-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509611
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509611
    reference: chr 1
allele count: 1
allele frequency: 8.645582971659779e-6
allele num: 115666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6426G>T
  hgvsp: ENST00000366709.4:c.6426G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15069G>T
  hgvsp: ENST00000284548.11:c.15069G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7971G>T
  hgvsp: ENST00000366707.4:c.7971G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15069G>T
  hgvsp: ENST00000422127.1:c.15069G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17940G>T
  hgvsp: ENST00000570156.2:c.17940G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro5980Pro
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-228509637-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509637
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509637
    reference: chr 1
allele count: 1
allele frequency: 8.950147677436678e-6
allele num: 111730
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6452T>C
  hgvsp: ENSP00000355670.4:p.Phe2151Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.7997T>C
  hgvsp: ENSP00000355668.4:p.Phe2666Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17966T>C
  hgvsp: ENSP00000455507.2:p.Phe5989Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15095T>C
  hgvsp: ENSP00000284548.11:p.Phe5032Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15095T>C
  hgvsp: ENSP00000409493.1:p.Phe5032Ser
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31517
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 493
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe5989Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

1-228509650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509650
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509650
    reference: chr 1
allele count: 3
allele frequency: 2.753910552985239e-5
allele num: 108936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15108C>T
  hgvsp: ENST00000422127.1:c.15108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8010C>T
  hgvsp: ENST00000366707.4:c.8010C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6465C>T
  hgvsp: ENST00000366709.4:c.6465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17979C>T
  hgvsp: ENST00000570156.2:c.17979C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15108C>T
  hgvsp: ENST00000284548.11:c.15108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14453
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
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genotype quality: GenotypeQuality
  all individuals: 73
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2391
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp5993Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/1-228509656-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509656
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509656
    reference: chr 1
allele count: 1
allele frequency: 9.274545083563651e-6
allele num: 107822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15114C>A
  hgvsp: ENST00000422127.1:c.15114C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17985C>A
  hgvsp: ENST00000570156.2:c.17985C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6471C>A
  hgvsp: ENST00000366709.4:c.6471C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15114C>A
  hgvsp: ENST00000284548.11:c.15114C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8016C>A
  hgvsp: ENST00000366707.4:c.8016C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 331
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly5995Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

1-228509656-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509656
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509656
    reference: chr 1
allele count: 1
allele frequency: 9.274545083563651e-6
allele num: 107822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6471C>T
  hgvsp: ENST00000366709.4:c.6471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.17985C>T
  hgvsp: ENST00000570156.2:c.17985C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8016C>T
  hgvsp: ENST00000366707.4:c.8016C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15114C>T
  hgvsp: ENST00000284548.11:c.15114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15114C>T
  hgvsp: ENST00000422127.1:c.15114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly5995Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

1-228509675-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509675
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509675
    reference: chr 1
allele count: 1
allele frequency: 9.617049104652728e-6
allele num: 103982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15133C>T
  hgvsp: ENSP00000284548.11:p.Pro5045Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6490C>T
  hgvsp: ENSP00000355670.4:p.Pro2164Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15133C>T
  hgvsp: ENSP00000409493.1:p.Pro5045Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8035C>T
  hgvsp: ENSP00000355668.4:p.Pro2679Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18004C>T
  hgvsp: ENSP00000455507.2:p.Pro6002Ser
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10244
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4757
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5373
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro6002Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-228509676-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509676
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509676
    reference: chr 1
allele count: 2
allele frequency: 1.926299770770327e-5
allele num: 103826
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18005C>A
  hgvsp: ENSP00000455507.2:p.Pro6002His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6491C>A
  hgvsp: ENSP00000355670.4:p.Pro2164His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15134C>A
  hgvsp: ENSP00000284548.11:p.Pro5045His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8036C>A
  hgvsp: ENSP00000355668.4:p.Pro2679His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15134C>A
  hgvsp: ENSP00000409493.1:p.Pro5045His
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11057
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro6002His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-228509677-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509677
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509677
    reference: chr 1
allele count: 101
allele frequency: 9.79137583372111e-4
allele num: 103152
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18006C>T
  hgvsp: ENST00000570156.2:c.18006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8037C>T
  hgvsp: ENST00000366707.4:c.8037C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6492C>T
  hgvsp: ENST00000366709.4:c.6492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15135C>T
  hgvsp: ENST00000284548.11:c.15135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15135C>T
  hgvsp: ENST00000422127.1:c.15135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9507
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8280
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11016
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 16097
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 9.75e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4886
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14503
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14892
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro6002Pro
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff

1-228509678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509678
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509678
    reference: chr 1
allele count: 2
allele frequency: 1.938022054690982e-5
allele num: 103198
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18007G>A
  hgvsp: ENSP00000455507.2:p.Ala6003Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8038G>A
  hgvsp: ENSP00000355668.4:p.Ala2680Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15136G>A
  hgvsp: ENSP00000284548.11:p.Ala5046Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6493G>A
  hgvsp: ENSP00000355670.4:p.Ala2165Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15136G>A
  hgvsp: ENSP00000409493.1:p.Ala5046Thr
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8150
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16134
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4900
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14664
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5521
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala6003Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

1-228509679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509679
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509679
    reference: chr 1
allele count: 8
allele frequency: 7.769253180538021e-5
allele num: 102970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6494C>T
  hgvsp: ENSP00000355670.4:p.Ala2165Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15137C>T
  hgvsp: ENSP00000409493.1:p.Ala5046Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8039C>T
  hgvsp: ENSP00000355668.4:p.Ala2680Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15137C>T
  hgvsp: ENSP00000284548.11:p.Ala5046Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18008C>T
  hgvsp: ENSP00000455507.2:p.Ala6003Val
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9195
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8196
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16246
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11242
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4944
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15821
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala6003Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

1-228509680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509680
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509680
    reference: chr 1
allele count: 3
allele frequency: 2.913866117564785e-5
allele num: 102956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15138G>A
  hgvsp: ENST00000284548.11:c.15138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6495G>A
  hgvsp: ENST00000366709.4:c.6495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15138G>A
  hgvsp: ENST00000422127.1:c.15138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8040G>A
  hgvsp: ENST00000366707.4:c.8040G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18009G>A
  hgvsp: ENST00000570156.2:c.18009G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16362
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11401
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5606
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4985
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala6003Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

1-228509681-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509681
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509681
    reference: chr 1
allele count: 1
allele frequency: 9.70817233947537e-6
allele num: 103006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6496G>A
  hgvsp: ENSP00000355670.4:p.Asp2166Asn
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8041G>A
  hgvsp: ENSP00000355668.4:p.Asp2681Asn
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18010G>A
  hgvsp: ENSP00000455507.2:p.Asp6004Asn
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15139G>A
  hgvsp: ENSP00000409493.1:p.Asp5047Asn
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15139G>A
  hgvsp: ENSP00000284548.11:p.Asp5047Asn
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8665
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5063
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3616
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp6004Asn
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

1-228509681-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509681
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509681
    reference: chr 1
allele count: 73
allele frequency: 7.08696580781702e-4
allele num: 103006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8041G>T
  hgvsp: ENSP00000355668.4:p.Asp2681Tyr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18010G>T
  hgvsp: ENSP00000455507.2:p.Asp6004Tyr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15139G>T
  hgvsp: ENSP00000284548.11:p.Asp5047Tyr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6496G>T
  hgvsp: ENSP00000355670.4:p.Asp2166Tyr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15139G>T
  hgvsp: ENSP00000409493.1:p.Asp5047Tyr
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11286
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 16578
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8665
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15473
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5063
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3616
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp6004Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

1-228509692-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509692
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509692
    reference: chr 1
allele count: 1
allele frequency: 9.831101673253505e-6
allele num: 101718
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8052A>G
  hgvsp: ENST00000366707.4:c.8052A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15150A>G
  hgvsp: ENST00000422127.1:c.15150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18021A>G
  hgvsp: ENST00000570156.2:c.18021A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6507A>G
  hgvsp: ENST00000366709.4:c.6507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15150A>G
  hgvsp: ENST00000284548.11:c.15150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10305
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6386
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr6007Thr
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

1-228509696-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509696
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509696
    reference: chr 1
allele count: 7
allele frequency: 6.969751279447199e-5
allele num: 100434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15154C>T
  hgvsp: ENSP00000409493.1:p.Arg5052Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6511C>T
  hgvsp: ENSP00000355670.4:p.Arg2171Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8056C>T
  hgvsp: ENSP00000355668.4:p.Arg2686Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15154C>T
  hgvsp: ENSP00000284548.11:p.Arg5052Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18025C>T
  hgvsp: ENSP00000455507.2:p.Arg6009Cys
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17579
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5574
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6421
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg6009Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD

1-228509697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509697
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509697
    reference: chr 1
allele count: 7
allele frequency: 6.981150892590007e-5
allele num: 100270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8057G>A
  hgvsp: ENSP00000355668.4:p.Arg2686His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15155G>A
  hgvsp: ENSP00000409493.1:p.Arg5052His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18026G>A
  hgvsp: ENSP00000455507.2:p.Arg6009His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15155G>A
  hgvsp: ENSP00000284548.11:p.Arg5052His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6512G>A
  hgvsp: ENSP00000355670.4:p.Arg2171His
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9804
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17642
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10320
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1800
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg6009His
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-228509698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509698
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509698
    reference: chr 1
allele count: 1
allele frequency: 9.966711184643292e-6
allele num: 100334
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18027C>T
  hgvsp: ENST00000570156.2:c.18027C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6513C>T
  hgvsp: ENST00000366709.4:c.6513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8058C>T
  hgvsp: ENST00000366707.4:c.8058C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15156C>T
  hgvsp: ENST00000284548.11:c.15156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15156C>T
  hgvsp: ENST00000422127.1:c.15156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17624
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5624
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6458
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg6009Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-228509699-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509699
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509699
    reference: chr 1
allele count: 10
allele frequency: 9.968300803445045e-5
allele num: 100318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15157G>A
  hgvsp: ENSP00000409493.1:p.Glu5053Lys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6514G>A
  hgvsp: ENSP00000355670.4:p.Glu2172Lys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15157G>A
  hgvsp: ENSP00000284548.11:p.Glu5053Lys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18028G>A
  hgvsp: ENSP00000455507.2:p.Glu6010Lys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8059G>A
  hgvsp: ENSP00000355668.4:p.Glu2687Lys
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9434
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10783
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8784
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17602
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5601
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15701
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu6010Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

1-228509703-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509703
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509703
    reference: chr 1
allele count: 1
allele frequency: 9.946290033817386e-6
allele num: 100540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15161A>G
  hgvsp: ENSP00000409493.1:p.Asp5054Gly
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15161A>G
  hgvsp: ENSP00000284548.11:p.Asp5054Gly
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18032A>G
  hgvsp: ENSP00000455507.2:p.Asp6011Gly
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8063A>G
  hgvsp: ENSP00000355668.4:p.Asp2688Gly
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6518A>G
  hgvsp: ENSP00000355670.4:p.Asp2173Gly
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6454
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15989
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4066
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5639
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp6011Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/1-228509706-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509706
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509706
    reference: chr 1
allele count: 2
allele frequency: 1.995808801516815e-5
allele num: 100210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15164A>C
  hgvsp: ENSP00000284548.11:p.Glu5055Ala
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8066A>C
  hgvsp: ENSP00000355668.4:p.Glu2689Ala
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6521A>C
  hgvsp: ENSP00000355670.4:p.Glu2174Ala
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15164A>C
  hgvsp: ENSP00000409493.1:p.Glu5055Ala
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18035A>C
  hgvsp: ENSP00000455507.2:p.Glu6012Ala
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17666
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15957
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu6012Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-228509711-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509711
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509711
    reference: chr 1
allele count: 1
allele frequency: 9.998600195972564e-6
allele num: 100014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8071T>C
  hgvsp: ENSP00000355668.4:p.Phe2691Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15169T>C
  hgvsp: ENSP00000409493.1:p.Phe5057Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15169T>C
  hgvsp: ENSP00000284548.11:p.Phe5057Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6526T>C
  hgvsp: ENSP00000355670.4:p.Phe2176Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18040T>C
  hgvsp: ENSP00000455507.2:p.Phe6014Leu
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9645
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15880
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6568
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5771
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe6014Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-228509714-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509714
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509714
    reference: chr 1
allele count: 1
allele frequency: 1.000400160064026e-5
allele num: 99960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15172A>G
  hgvsp: ENSP00000284548.11:p.Ile5058Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18043A>G
  hgvsp: ENSP00000455507.2:p.Ile6015Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15172A>G
  hgvsp: ENSP00000409493.1:p.Ile5058Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8074A>G
  hgvsp: ENSP00000355668.4:p.Ile2692Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6529A>G
  hgvsp: ENSP00000355670.4:p.Ile2177Val
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9617
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16018
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6550
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile6015Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

1-228509723-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509723
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509723
    reference: chr 1
allele count: 6
allele frequency: 6.053879527797397e-5
allele num: 99110
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18052C>T
  hgvsp: ENSP00000455507.2:p.Arg6018Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15181C>T
  hgvsp: ENSP00000409493.1:p.Arg5061Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8083C>T
  hgvsp: ENSP00000355668.4:p.Arg2695Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15181C>T
  hgvsp: ENSP00000284548.11:p.Arg5061Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6538C>T
  hgvsp: ENSP00000355670.4:p.Arg2180Cys
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17409
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10977
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5747
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Arg6018Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-228509724-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509724
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509724
    reference: chr 1
allele count: 2
allele frequency: 2.013206635529071e-5
allele num: 99344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15182G>A
  hgvsp: ENSP00000409493.1:p.Arg5061His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15182G>A
  hgvsp: ENSP00000284548.11:p.Arg5061His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18053G>A
  hgvsp: ENSP00000455507.2:p.Arg6018His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8084G>A
  hgvsp: ENSP00000355668.4:p.Arg2695His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6539G>A
  hgvsp: ENSP00000355670.4:p.Arg2180His
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9681
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6466
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg6018His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

1-228509724-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509724
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509724
    reference: chr 1
allele count: 2
allele frequency: 2.013206635529071e-5
allele num: 99344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15182G>T
  hgvsp: ENSP00000284548.11:p.Arg5061Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15182G>T
  hgvsp: ENSP00000409493.1:p.Arg5061Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18053G>T
  hgvsp: ENSP00000455507.2:p.Arg6018Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6539G>T
  hgvsp: ENSP00000355670.4:p.Arg2180Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8084G>T
  hgvsp: ENSP00000355668.4:p.Arg2695Leu
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9681
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6466
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15814
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg6018Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

1-228509733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509733
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509733
    reference: chr 1
allele count: 198
allele frequency: 1.987073983380836e-3
allele num: 99644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6548C>T
  hgvsp: ENSP00000355670.4:p.Ala2183Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15191C>T
  hgvsp: ENSP00000284548.11:p.Ala5064Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15191C>T
  hgvsp: ENSP00000409493.1:p.Ala5064Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18062C>T
  hgvsp: ENSP00000455507.2:p.Ala6021Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8093C>T
  hgvsp: ENSP00000355668.4:p.Ala2698Val
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 12821
  bin: 2.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9442
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 8859
  bin: 1.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 16712
  bin: 1.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15541
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6145
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5532
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14478
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 9.75e1
  variant carriers: 186
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala6021Val
num of homozygotes: 2
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-228509734-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509734
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509734
    reference: chr 1
allele count: 3
allele frequency: 3.013500482160077e-5
allele num: 99552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15192G>A
  hgvsp: ENST00000422127.1:c.15192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15192G>A
  hgvsp: ENST00000284548.11:c.15192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8094G>A
  hgvsp: ENST00000366707.4:c.8094G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6549G>A
  hgvsp: ENST00000366709.4:c.6549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18063G>A
  hgvsp: ENST00000570156.2:c.18063G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16575
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8813
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3843
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5499
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala6021Ala
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-228509745-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509745
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509745
    reference: chr 1
allele count: 1
allele frequency: 9.926543577526305e-6
allele num: 100740
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6560C>A
  hgvsp: ENSP00000355670.4:p.Ala2187Asp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15203C>A
  hgvsp: ENSP00000409493.1:p.Ala5068Asp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15203C>A
  hgvsp: ENSP00000284548.11:p.Ala5068Asp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8105C>A
  hgvsp: ENSP00000355668.4:p.Ala2702Asp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18074C>A
  hgvsp: ENSP00000455507.2:p.Ala6025Asp
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15002
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3521
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala6025Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

1-228509747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509747
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509747
    reference: chr 1
allele count: 2
allele frequency: 1.982632142432293e-5
allele num: 100876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8107C>T
  hgvsp: ENSP00000355668.4:p.Arg2703Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15205C>T
  hgvsp: ENSP00000284548.11:p.Arg5069Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15205C>T
  hgvsp: ENSP00000409493.1:p.Arg5069Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6562C>T
  hgvsp: ENSP00000355670.4:p.Arg2188Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18076C>T
  hgvsp: ENSP00000455507.2:p.Arg6026Cys
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15357
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7572
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg6026Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-228509748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509748
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509748
    reference: chr 1
allele count: 4
allele frequency: 3.98017871002408e-5
allele num: 100498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8108G>A
  hgvsp: ENSP00000355668.4:p.Arg2703His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15206G>A
  hgvsp: ENSP00000284548.11:p.Arg5069His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6563G>A
  hgvsp: ENSP00000355670.4:p.Arg2188His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18077G>A
  hgvsp: ENSP00000455507.2:p.Arg6026His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15206G>A
  hgvsp: ENSP00000409493.1:p.Arg5069His
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7533
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15558
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg6026His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-228509748-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509748
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509748
    reference: chr 1
allele count: 16
allele frequency: 1.592071484009632e-4
allele num: 100498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6563G>C
  hgvsp: ENSP00000355670.4:p.Arg2188Pro
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8108G>C
  hgvsp: ENSP00000355668.4:p.Arg2703Pro
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18077G>C
  hgvsp: ENSP00000455507.2:p.Arg6026Pro
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15206G>C
  hgvsp: ENSP00000409493.1:p.Arg5069Pro
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15206G>C
  hgvsp: ENSP00000284548.11:p.Arg5069Pro
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15558
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15135
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7533
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5397
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4984
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16944
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 9.75e1
  variant carriers: 16
hgvs: p.Arg6026Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

1-228509751-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509751
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509751
    reference: chr 1
allele count: 2
allele frequency: 1.959477995062115e-5
allele num: 102068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8111A>G
  hgvsp: ENSP00000355668.4:p.Gln2704Arg
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15209A>G
  hgvsp: ENSP00000409493.1:p.Gln5070Arg
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15209A>G
  hgvsp: ENSP00000284548.11:p.Gln5070Arg
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6566A>G
  hgvsp: ENSP00000355670.4:p.Gln2189Arg
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18080A>G
  hgvsp: ENSP00000455507.2:p.Gln6027Arg
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14778
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16561
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5260
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln6027Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

1-228509754-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509754
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509754
    reference: chr 1
allele count: 4
allele frequency: 3.919263178522438e-5
allele num: 102060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6569C>T
  hgvsp: ENSP00000355670.4:p.Ala2190Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18083C>T
  hgvsp: ENSP00000455507.2:p.Ala6028Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8114C>T
  hgvsp: ENSP00000355668.4:p.Ala2705Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15212C>T
  hgvsp: ENSP00000409493.1:p.Ala5071Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15212C>T
  hgvsp: ENSP00000284548.11:p.Ala5071Val
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17178
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18697
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13890
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala6028Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

1-228509755-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509755
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509755
    reference: chr 1
allele count: 2
allele frequency: 1.957406827435014e-5
allele num: 102176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15213G>A
  hgvsp: ENST00000284548.11:c.15213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6570G>A
  hgvsp: ENST00000366709.4:c.6570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15213G>A
  hgvsp: ENST00000422127.1:c.15213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8115G>A
  hgvsp: ENST00000366707.4:c.8115G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18084G>A
  hgvsp: ENST00000570156.2:c.18084G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5000
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala6028Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

1-228509756-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509756
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509756
    reference: chr 1
allele count: 1
allele frequency: 9.7492493078033e-6
allele num: 102572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15214G>T
  hgvsp: ENSP00000284548.11:p.Val5072Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6571G>T
  hgvsp: ENSP00000355670.4:p.Val2191Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18085G>T
  hgvsp: ENSP00000455507.2:p.Val6029Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8116G>T
  hgvsp: ENSP00000355668.4:p.Val2706Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15214G>T
  hgvsp: ENSP00000409493.1:p.Val5072Leu
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4953
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19880
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4506
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val6029Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

1-228509762-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509762
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509762
    reference: chr 1
allele count: 2
allele frequency: 1.932628568115494e-5
allele num: 103486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8122C>T
  hgvsp: ENSP00000355668.4:p.Arg2708Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6577C>T
  hgvsp: ENSP00000355670.4:p.Arg2193Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15220C>T
  hgvsp: ENSP00000284548.11:p.Arg5074Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18091C>T
  hgvsp: ENSP00000455507.2:p.Arg6031Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15220C>T
  hgvsp: ENSP00000409493.1:p.Arg5074Cys
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12871
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg6031Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

1-228509763-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509763
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509763
    reference: chr 1
allele count: 6
allele frequency: 5.781349366942244e-5
allele num: 103782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8123G>A
  hgvsp: ENSP00000355668.4:p.Arg2708His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18092G>A
  hgvsp: ENSP00000455507.2:p.Arg6031His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15221G>A
  hgvsp: ENSP00000284548.11:p.Arg5074His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15221G>A
  hgvsp: ENSP00000409493.1:p.Arg5074His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6578G>A
  hgvsp: ENSP00000355670.4:p.Arg2193His
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6955
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19752
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12685
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4095
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4477
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg6031His
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

1-228509766-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509766
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509765
    reference: chr 1
allele count: 1
allele frequency: 9.568096140230018e-6
allele num: 104514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15226delC
  hgvsp: ENSP00000284548.11:p.Gln5076ArgfsTer23
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8128delC
  hgvsp: ENSP00000355668.4:p.Gln2710ArgfsTer23
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18097delC
  hgvsp: ENSP00000455507.2:p.Gln6033ArgfsTer23
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6583delC
  hgvsp: ENSP00000355670.4:p.Gln2195ArgfsTer23
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15226delC
  hgvsp: ENSP00000409493.1:p.Gln5076ArgfsTer23
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12293
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln6033ArgfsTer23
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TC
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

1-228509771-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509771
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509771
    reference: chr 1
allele count: 1
allele frequency: 9.493791060646337e-6
allele num: 105332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6586G>A
  hgvsp: ENSP00000355670.4:p.Glu2196Lys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18100G>A
  hgvsp: ENSP00000455507.2:p.Glu6034Lys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15229G>A
  hgvsp: ENSP00000284548.11:p.Glu5077Lys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8131G>A
  hgvsp: ENSP00000355668.4:p.Glu2711Lys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15229G>A
  hgvsp: ENSP00000409493.1:p.Glu5077Lys
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3978
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu6034Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-228509780-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509780
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509780
    reference: chr 1
allele count: 3
allele frequency: 2.818277468811063e-5
allele num: 106448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15238G>A
  hgvsp: ENSP00000284548.11:p.Ala5080Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15238G>A
  hgvsp: ENSP00000409493.1:p.Ala5080Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18109G>A
  hgvsp: ENSP00000455507.2:p.Ala6037Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8140G>A
  hgvsp: ENSP00000355668.4:p.Ala2714Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6595G>A
  hgvsp: ENSP00000355670.4:p.Ala2199Thr
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10059
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10675
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala6037Thr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-228509790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509790
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509790
    reference: chr 1
allele count: 5
allele frequency: 4.629801103744583e-5
allele num: 107996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8150G>A
  hgvsp: ENSP00000355668.4:p.Gly2717Asp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15248G>A
  hgvsp: ENSP00000409493.1:p.Gly5083Asp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15248G>A
  hgvsp: ENSP00000284548.11:p.Gly5083Asp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18119G>A
  hgvsp: ENSP00000455507.2:p.Gly6040Asp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6605G>A
  hgvsp: ENSP00000355670.4:p.Gly2202Asp
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1160
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 17
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 15
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genotype depth: GenotypeDepth
  all individuals: 35
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3004
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genotype quality: GenotypeQuality
  all individuals: 2130
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genotype quality: GenotypeQuality
  all individuals: 473
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genotype quality: GenotypeQuality
  all individuals: 283
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 132
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genotype quality: GenotypeQuality
  all individuals: 1161
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly6040Asp
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS

1-228509796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509796
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509796
    reference: chr 1
allele count: 1
allele frequency: 9.179701843284131e-6
allele num: 108936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6611G>A
  hgvsp: ENSP00000355670.4:p.Gly2204Glu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18125G>A
  hgvsp: ENSP00000455507.2:p.Gly6042Glu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15254G>A
  hgvsp: ENSP00000409493.1:p.Gly5085Glu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15254G>A
  hgvsp: ENSP00000284548.11:p.Gly5085Glu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8156G>A
  hgvsp: ENSP00000355668.4:p.Gly2719Glu
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7992
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 386
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 633
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28998
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1335
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genotype quality: GenotypeQuality
  all individuals: 2360
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genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly6042Glu
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-228509797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509797
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509797
    reference: chr 1
allele count: 1
allele frequency: 9.161536206391088e-6
allele num: 109152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15255G>A
  hgvsp: ENST00000284548.11:c.15255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15255G>A
  hgvsp: ENST00000422127.1:c.15255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6612G>A
  hgvsp: ENST00000366709.4:c.6612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8157G>A
  hgvsp: ENST00000366707.4:c.8157G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18126G>A
  hgvsp: ENST00000570156.2:c.18126G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25598
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 891
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
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genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 513
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genotype quality: GenotypeQuality
  all individuals: 1316
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3882
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genotype quality: GenotypeQuality
  all individuals: 162
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genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly6042Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-228509804-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509804
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509804
    reference: chr 1
allele count: 11
allele frequency: 9.99636495819702e-5
allele num: 110040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15262A>C
  hgvsp: ENSP00000284548.11:p.Ile5088Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15262A>C
  hgvsp: ENSP00000409493.1:p.Ile5088Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8164A>C
  hgvsp: ENSP00000355668.4:p.Ile2722Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6619A>C
  hgvsp: ENSP00000355670.4:p.Ile2207Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18133A>C
  hgvsp: ENSP00000455507.2:p.Ile6045Leu
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9560
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25730
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8069
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28875
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile6045Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

1-228509808-AGCTGGTGGAACAGGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509808
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509793
    reference: chr 1
allele count: 1
allele frequency: 9.038812661568777e-6
allele num: 110634
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsp: ENSP00000455507.2:p.Leu6047_Gly6051del
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsp: ENSP00000355668.4:p.Leu2724_Gly2728del
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsp: ENSP00000284548.11:p.Leu5090_Gly5094del
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsp: ENSP00000355670.4:p.Leu2209_Gly2213del
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsp: ENSP00000409493.1:p.Leu5090_Gly5094del
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu6047_Gly6051del
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: AGCTGGTGGAACAGGG
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

1-228509818-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509818
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509818
    reference: chr 1
allele count: 1
allele frequency: 8.928411992642989e-6
allele num: 112002
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15276A>G
  hgvsp: ENST00000422127.1:c.15276A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18147A>G
  hgvsp: ENST00000570156.2:c.18147A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15276A>G
  hgvsp: ENST00000284548.11:c.15276A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6633A>G
  hgvsp: ENST00000366709.4:c.6633A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8178A>G
  hgvsp: ENST00000366707.4:c.8178A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu6049Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-228509828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509828
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509828
    reference: chr 1
allele count: 3
allele frequency: 2.64447656993759e-5
allele num: 113444
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18157C>T
  hgvsp: ENSP00000455507.2:p.Arg6053Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8188C>T
  hgvsp: ENSP00000355668.4:p.Arg2730Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15286C>T
  hgvsp: ENSP00000284548.11:p.Arg5096Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6643C>T
  hgvsp: ENSP00000355670.4:p.Arg2215Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15286C>T
  hgvsp: ENSP00000409493.1:p.Arg5096Trp
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12568
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg6053Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

1-228509829-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228509829
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228509829
    reference: chr 1
allele count: 1
allele frequency: 8.785802143735723e-6
allele num: 113820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.8189G>A
  hgvsp: ENSP00000355668.4:p.Arg2730Gln
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.15287G>A
  hgvsp: ENSP00000284548.11:p.Arg5096Gln
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.18158G>A
  hgvsp: ENSP00000455507.2:p.Arg6053Gln
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.15287G>A
  hgvsp: ENSP00000409493.1:p.Arg5096Gln
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.6644G>A
  hgvsp: ENSP00000355670.4:p.Arg2215Gln
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34416
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg6053Gln
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 133
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2243
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8248
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65332
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
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: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: -3.56e-1

DP
type: SiteQuality
SIO_000300: 1.715605e6

FS
type: SiteQuality
SIO_000300: 8.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.123e0

QD
type: SiteQuality
SIO_000300: 1.101e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 7.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.179e0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8184
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2230
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65064
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: 9428
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817520901490367e-4
allele num: 16506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.06e-1

DP
type: SiteQuality
SIO_000300: 1.70931e6

FS
type: SiteQuality
SIO_000300: 2.745e0

MQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 1.268e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

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

GenotypeQuality
all individuals: 222
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2228
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39352
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64978
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.665267086540705e-4
allele num: 8574
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.075e0

MQRankSum
type: SiteQuality
SIO_000300: -4.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.158e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.387e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

DP
type: SiteQuality
SIO_000300: 1.707628e6

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

GenotypeQuality
all individuals: 505
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9372
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.483e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.706551e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.108e1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

GenotypeQuality
all individuals: 8152
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3352
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2220
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166316771635176e-4
allele num: 8574
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: 16502
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64938
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

MQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.157e0

FS
type: SiteQuality
SIO_000300: 5.81e-1

QD
type: SiteQuality
SIO_000300: 8.67e0

DP
type: SiteQuality
SIO_000300: 1.705661e6

GenotypeQuality
all individuals: 504
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2212
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3347
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 603
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64600
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9256
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.700709e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.759e0

FS
type: SiteQuality
SIO_000300: 2.533e0

MQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

QD
type: SiteQuality
SIO_000300: 1.001e1

MQ
type: SiteQuality
SIO_000300: 5.983e1

GenotypeQuality
all individuals: 1597
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8101
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2212
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.603714632876237e-4
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 61
allele frequency: 6.56761412575366e-3
allele num: 9288
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.021e0

FS
type: SiteQuality
SIO_000300: 5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

DP
type: SiteQuality
SIO_000300: 1.701526e6

GenotypeQuality
all individuals: 248
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2215
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39091
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
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: 1
allele frequency: 1.546933976857868e-5
allele num: 64644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.364e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.82e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.697646e6

FS
type: SiteQuality
SIO_000300: 2.898e0

QD
type: SiteQuality
SIO_000300: 1.503e1

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

GenotypeQuality
all individuals: 2214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3301
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 599
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8098
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38967
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548898733000836e-5
allele num: 64562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9240
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.09e-1

DP
type: SiteQuality
SIO_000300: 1.696211e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.528e0

FS
type: SiteQuality
SIO_000300: 7.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.828e0

MQ
type: SiteQuality
SIO_000300: 5.807e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e0

QD
type: SiteQuality
SIO_000300: 1.067e1

GenotypeQuality
all individuals: 1189
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 504
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3296
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550964700043427e-5
allele num: 64476
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168497312456181e-4
allele num: 8558
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 5.588e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

DP
type: SiteQuality
SIO_000300: 1.694229e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.01e-1

QD
type: SiteQuality
SIO_000300: 1.288e1

GenotypeQuality
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8077
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 38939
bin: 6.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.104433130510369e-5
allele num: 64424
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

FS
type: SiteQuality
SIO_000300: 4.357e0

QD
type: SiteQuality
SIO_000300: 1.195e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.033e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.69354e6

GenotypeQuality
all individuals: 266
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168224299065421e-4
allele num: 8560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64330
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: 9152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.798e0

QD
type: SiteQuality
SIO_000300: 8.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.869e0

DP
type: SiteQuality
SIO_000300: 1.692021e6

FS
type: SiteQuality
SIO_000300: 9.19e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: -1.958e0

GenotypeQuality
all individuals: 505
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2206
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GenotypeQuality
all individuals: 1180
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554146462762651e-5
allele num: 64344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.029935765361775e-4
allele num: 16502
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

DP
type: SiteQuality
SIO_000300: 1.692029e6

FS
type: SiteQuality
SIO_000300: 5.72e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.349e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-1

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 596
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variant carriers: 0

GenotypeQuality
all individuals: 2200
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variant carriers: 0

GenotypeQuality
all individuals: 38815
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557583875891717e-5
allele num: 64202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9110
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 1.692e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 1.688508e6

QD
type: SiteQuality
SIO_000300: 1.447e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1703
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variant carriers: 0

GenotypeQuality
all individuals: 596
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variant carriers: 0

GenotypeQuality
all individuals: 38834
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variant carriers: 0

GenotypeQuality
all individuals: 292
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variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.506311360448808e-4
allele num: 8556
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: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.096731739416539e-4
allele num: 9118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.115847198853368e-5
allele num: 64188
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

FS
type: SiteQuality
SIO_000300: 6.0e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.234e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.304e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

DP
type: SiteQuality
SIO_000300: 1.688102e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-1

GenotypeQuality
all individuals: 1474
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3271
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2167
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variant carriers: 0

GenotypeQuality
all individuals: 595
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variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9018
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.264879087833605e-5
allele num: 63848
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
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: 874
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 1.237e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

DP
type: SiteQuality
SIO_000300: 1.683521e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.25e-1

FS
type: SiteQuality
SIO_000300: 2.057e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

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

GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 38621
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GenotypeQuality
all individuals: 235
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variant carriers: 0

GenotypeQuality
all individuals: 492
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variant carriers: 0

GenotypeQuality
all individuals: 7932
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.37e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 1.682972e6

MQRankSum
type: SiteQuality
SIO_000300: 8.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.028e1

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3265
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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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bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.102535832414554e-4
allele num: 9070
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63990
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.102e0

DP
type: SiteQuality
SIO_000300: 1.682913e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

FS
type: SiteQuality
SIO_000300: 9.175000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

QD
type: SiteQuality
SIO_000300: 9.51e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.225e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1162
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variant carriers: 0

GenotypeQuality
all individuals: 7934
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.053268765133172e-4
allele num: 6608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.688672168042011e-5
allele num: 63984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9068
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.69e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.481e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.21e-1

QD
type: SiteQuality
SIO_000300: 1.524e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.682494e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.83e-1

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: 34

GenotypeQuality
all individuals: 485
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GenotypeQuality
all individuals: 150
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variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.209456473707468e-4
allele num: 9052
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.713837574067619e-5
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 5.008294988574827e-4
allele num: 63894
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.680072e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

FS
type: SiteQuality
SIO_000300: 2.063e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

QD
type: SiteQuality
SIO_000300: 1.274e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.08e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 3675
bin: 9.75e1
variant carriers: 1098

GenotypeQuality
all individuals: 193
bin: 3.75e1
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GenotypeQuality
all individuals: 549
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GenotypeQuality
all individuals: 2125
bin: 7.75e1
variant carriers: 1

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

Other
type: Population
allele count: 10
allele frequency: 1.1441647597254e-2
allele num: 874
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.250508018882671e-4
allele num: 63974
num of homozygotes: 0

Latino
type: Population
allele count: 614
allele frequency: 5.351228865260589e-2
allele num: 11474
num of homozygotes: 20

South Asian
type: Population
allele count: 23
allele frequency: 1.394953905870936e-3
allele num: 16488
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.212254793916685e-3
allele num: 9074
num of homozygotes: 0

East Asian
type: Population
allele count: 483
allele frequency: 5.654413486302973e-2
allele num: 8542
num of homozygotes: 14

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.79e-2

DP
type: SiteQuality
SIO_000300: 1.685919e6

FS
type: SiteQuality
SIO_000300: 1.413e0

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2154
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9072
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.045e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.283e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e0

DP
type: SiteQuality
SIO_000300: 1.650384e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.437e0

QD
type: SiteQuality
SIO_000300: 1.436e1

GenotypeQuality
all individuals: 1119
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2146
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2215
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 543
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.132733936906739e-5
allele num: 63842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.638636866563399e-4
allele num: 9038
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.329e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.81e-1

QD
type: SiteQuality
SIO_000300: 1.225e1

VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-1

DP
type: SiteQuality
SIO_000300: 1.646733e6

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

GenotypeQuality
all individuals: 85
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.10692937790569e-3
allele num: 9034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566857823321112e-5
allele num: 63822
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.749169144656288e-4
allele num: 11434
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.592e0

DP
type: SiteQuality
SIO_000300: 1.644638e6

FS
type: SiteQuality
SIO_000300: 6.29e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
all individuals: 565
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37875
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2631
bin: 9.75e1
variant carriers: 213

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

East Asian
type: Population
allele count: 128
allele frequency: 1.520190023752969e-2
allele num: 8420
num of homozygotes: 1

African
type: Population
allele count: 5
allele frequency: 5.595344673231871e-4
allele num: 8936
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.768659356207994e-4
allele num: 11308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.441257247482453e-3
allele num: 6554
num of homozygotes: 1

South Asian
type: Population
allele count: 31
allele frequency: 1.896024464831804e-3
allele num: 16350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 5.841859290135152e-4
allele num: 63336
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.381e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

FS
type: SiteQuality
SIO_000300: 1.374e0

DP
type: SiteQuality
SIO_000300: 1.615853e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 7692
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2435
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 303
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.242152466367713e-4
allele num: 8920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579728918517582e-5
allele num: 63302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 7.192e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.338e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 1.607351e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

GenotypeQuality
all individuals: 1081
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 178
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3452
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.846426043878273e-5
allele num: 11304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8920
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63302
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

FS
type: SiteQuality
SIO_000300: 7.192e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.607351e6

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

GenotypeQuality
all individuals: 6702
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7534
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variant carriers: 0

GenotypeQuality
all individuals: 561
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variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.633346400104534e-5
allele num: 61224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10770
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

VQSLOD
type: SiteQuality
SIO_000300: 8.8e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

MQRankSum
type: SiteQuality
SIO_000300: 7.96e-1

FS
type: SiteQuality
SIO_000300: 2.033e0

DP
type: SiteQuality
SIO_000300: 1.478232e6

QD
type: SiteQuality
SIO_000300: 8.34e0

GenotypeQuality
all individuals: 504
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5246
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10326
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.284026707755521e-4
allele num: 7788
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.19047619047619e-4
allele num: 8400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59738
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.381620931716656e-5
allele num: 15670
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

QD
type: SiteQuality
SIO_000300: 9.300000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-1

FS
type: SiteQuality
SIO_000300: 3.077e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.71e-1

DP
type: SiteQuality
SIO_000300: 1.381694e6

GenotypeQuality
all individuals: 1378
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24260
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3236
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11518
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.690731410408142e-5
allele num: 59146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15544
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7696
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.458e0

MQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

DP
type: SiteQuality
SIO_000300: 1.338925e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.103e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.93e-1

QD
type: SiteQuality
SIO_000300: 1.529e1

VQSLOD
type: SiteQuality
SIO_000300: 8.400000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

GenotypeQuality
all individuals: 2387
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 472
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variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 5.25e1
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GenotypeQuality
all individuals: 1366
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4716
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.299376299376299e-4
allele num: 7696
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59146
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 1.338925e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.103e0

VQSLOD
type: SiteQuality
SIO_000300: 8.400000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.93e-1

QD
type: SiteQuality
SIO_000300: 1.529e1

MQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 6.458e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1483
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variant carriers: 0

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

GenotypeQuality
all individuals: 1141
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
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variant carriers: 0

GenotypeQuality
all individuals: 3404
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1562
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5902
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.751988506955394e-5
allele num: 57078
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.163e0

VQSLOD
type: SiteQuality
SIO_000300: 6.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.203727e6

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-1

FS
type: SiteQuality
SIO_000300: 7.203e0

QD
type: SiteQuality
SIO_000300: 1.056e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

GenotypeQuality
all individuals: 2929
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 383
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.70929287455974e-4
allele num: 7382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15120
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

QD
type: SiteQuality
SIO_000300: 9.98e0

DP
type: SiteQuality
SIO_000300: 1.197522e6

FS
type: SiteQuality
SIO_000300: 3.327e0

VQSLOD
type: SiteQuality
SIO_000300: 3.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.31e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5562
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1633
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3538
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5864
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.218519299725796e-4
allele num: 9482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.296610169491525e-5
allele num: 56640
num of homozygotes: 0

South Asian
type: Population
allele count: 93
allele frequency: 6.176939426142402e-3
allele num: 15056
num of homozygotes: 1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.367614879649891e-4
allele num: 7312
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.68e-1

QD
type: SiteQuality
SIO_000300: 1.458e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.192567e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

GenotypeQuality
all individuals: 1391
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15878
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15022
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.05999576001696e-4
allele num: 9434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.762611485176437e-5
allele num: 56734
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.747e0

FS
type: SiteQuality
SIO_000300: 2.127e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

DP
type: SiteQuality
SIO_000300: 1.187902e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.18e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 464
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variant carriers: 0

GenotypeQuality
all individuals: 5586
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.488800398208064e-4
allele num: 8036
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.665777896280495e-5
allele num: 15002
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.534693011911915e-5
allele num: 56582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5852
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.735229759299781e-4
allele num: 7312
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.06315118009781e-4
allele num: 9406
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

DP
type: SiteQuality
SIO_000300: 1.183189e6

QD
type: SiteQuality
SIO_000300: 1.145e1

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 2.032e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

GenotypeQuality
all individuals: 14838
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1187
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variant carriers: 0

GenotypeQuality
all individuals: 1517
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9382
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.371365880416895e-4
allele num: 7292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.70590242238144e-4
allele num: 5862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.681812107443539e-5
allele num: 14966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56618
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.409e1

DP
type: SiteQuality
SIO_000300: 1.180121e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.398e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 3.847e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 670
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variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
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variant carriers: 0

GenotypeQuality
all individuals: 693
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variant carriers: 0

GenotypeQuality
all individuals: 15473
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2761
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5860
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56688
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.37211855104281e-4
allele num: 7288
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.173448e6

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

GenotypeQuality
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bin: 9.75e1
variant carriers: 75

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 941
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variant carriers: 2

GenotypeQuality
all individuals: 1230
bin: 4.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 6
allele frequency: 1.023890784982935e-3
allele num: 5860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7288
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.196249733645856e-4
allele num: 9386
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.976362279173924e-4
allele num: 8038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 52
allele frequency: 9.1730172170477e-4
allele num: 56688
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.344735435595938e-4
allele num: 14968
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

QD
type: SiteQuality
SIO_000300: 1.248e1

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

DP
type: SiteQuality
SIO_000300: 1.173448e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 377
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variant carriers: 0

GenotypeQuality
all individuals: 15420
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GenotypeQuality
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GenotypeQuality
all individuals: 2358
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variant carriers: 1

GenotypeQuality
all individuals: 682
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.781895937277263e-5
allele num: 56120
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.126e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.058e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 1.136072e6

GenotypeQuality
all individuals: 1068
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
all individuals: 884
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GenotypeQuality
all individuals: 373
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7000
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.119068934646374e-4
allele num: 8936
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.406769275132466e-5
allele num: 55486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.052545155993432e-4
allele num: 14616
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 1.128631e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

GenotypeQuality
all individuals: 1426
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GenotypeQuality
all individuals: 674
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5639
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8896
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.371930305940458e-4
allele num: 14578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.262626262626263e-4
allele num: 7920
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.217350510627549e-5
allele num: 55422
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
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VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.208e1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

FS
type: SiteQuality
SIO_000300: 4.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

DP
type: SiteQuality
SIO_000300: 1.123131e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

GenotypeQuality
all individuals: 881
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4209
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GenotypeQuality
all individuals: 2359
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GenotypeQuality
all individuals: 1399
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8924
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.259445843828715e-4
allele num: 7940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5702
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14590
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.122908e6

VQSLOD
type: SiteQuality
SIO_000300: -6.797e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

QD
type: SiteQuality
SIO_000300: 1.04e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-1

MQ
type: SiteQuality
SIO_000300: 5.587e1

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-1

GenotypeQuality
all individuals: 871
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6392
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 875
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2335
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5696
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.259445843828715e-4
allele num: 7940
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.288290867449184e-3
allele num: 6986
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.744e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

FS
type: SiteQuality
SIO_000300: 2.135e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

QD
type: SiteQuality
SIO_000300: 1.089e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.124084e6

GenotypeQuality
all individuals: 924
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13722
bin: 6.25e1
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GenotypeQuality
all individuals: 467
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.797979071523607e-5
allele num: 55618
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7004
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5704
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.334e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

FS
type: SiteQuality
SIO_000300: 6.306e0

DP
type: SiteQuality
SIO_000300: 1.120651e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.83e0

GenotypeQuality
all individuals: 5666
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6475
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 898
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variant carriers: 0

GenotypeQuality
all individuals: 2335
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.430205949656751e-4
allele num: 6992
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5688
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.128668171557562e-4
allele num: 8860
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.626e-1

DP
type: SiteQuality
SIO_000300: 1.117513e6

FS
type: SiteQuality
SIO_000300: 1.0488e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2324
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7948
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.922331441229406e-5
allele num: 14446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55374
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.111718e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
SIO_000300: -2.889e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.247e0

QD
type: SiteQuality
SIO_000300: 1.473e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
all individuals: 303
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 883
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variant carriers: 0

GenotypeQuality
all individuals: 1369
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variant carriers: 0

GenotypeQuality
all individuals: 5781
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.806162626882924e-5
allele num: 55366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5670
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14446
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6968
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.202e0

QD
type: SiteQuality
SIO_000300: 1.929e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.307e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.152e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 1.111247e6

GenotypeQuality
all individuals: 1627
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 888
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11471
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6860
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.491132523390588e-4
allele num: 14322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.819769981074392e-5
allele num: 54952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.137e1

MQRankSum
type: SiteQuality
SIO_000300: 5.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

DP
type: SiteQuality
SIO_000300: 1.112066e6

GenotypeQuality
all individuals: 1858
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2363
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 891
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15814
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variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12562
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5630
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.891008962127783e-4
allele num: 6918
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7878
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

QD
type: SiteQuality
SIO_000300: 1.032e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

FS
type: SiteQuality
SIO_000300: 2.452e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

DP
type: SiteQuality
SIO_000300: 1.113904e6

GenotypeQuality
all individuals: 374
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2363
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 671
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4115
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.813828629471087e-5
allele num: 55132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.149954001839926e-4
allele num: 8696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6918
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14342
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.032e1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

FS
type: SiteQuality
SIO_000300: 2.452e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

DP
type: SiteQuality
SIO_000300: 1.113904e6

GenotypeQuality
all individuals: 497
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 498
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 682
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1235
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 9.25e1
variant carriers: 2

South Asian
type: Population
allele count: 26
allele frequency: 1.815135437028763e-3
allele num: 14324
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 7.589172780166962e-4
allele num: 7906
num of homozygotes: 0

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

East Asian
type: Population
allele count: 110
allele frequency: 1.583189407023604e-2
allele num: 6948
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 38
allele frequency: 6.870615462500904e-4
allele num: 55308
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.284669865204478e-4
allele num: 8754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.830856334041048e-3
allele num: 5652
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

QD
type: SiteQuality
SIO_000300: 1.193e1

VQSLOD
type: SiteQuality
SIO_000300: 5.73e0

DP
type: SiteQuality
SIO_000300: 1.127765e6

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

GenotypeQuality
all individuals: 1261
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15442
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6091
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14290
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.809430753085079e-5
allele num: 55266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5638
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.39703827884884e-4
allele num: 14316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.12847e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

MQ
type: SiteQuality
SIO_000300: 5.987e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

GenotypeQuality
all individuals: 468
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5627
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8892
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56040
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.964758322886195e-5
allele num: 14358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.896e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 9.18e0

DP
type: SiteQuality
SIO_000300: 1.152614e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1500
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5531
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3471
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5101
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16543
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.41643059490085e-4
allele num: 7060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.781959442603086e-5
allele num: 56118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14362
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.452e0

VQSLOD
type: SiteQuality
SIO_000300: 5.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

DP
type: SiteQuality
SIO_000300: 1.159271e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.582e1

GenotypeQuality
all individuals: 692
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4984
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5397
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7966
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.366726296958855e-5
allele num: 55900
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.127904353710805e-4
allele num: 8866
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

DP
type: SiteQuality
SIO_000300: 1.167279e6

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.486e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

GenotypeQuality
all individuals: 338
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
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variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.073345259391771e-4
allele num: 55900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5652
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7966
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.969612489545581e-4
allele num: 14348
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.245e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.167279e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 2.486e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeQuality
all individuals: 4795
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2769
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
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variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18735
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 7.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9066
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.797202797202797e-4
allele num: 7150
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14488
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4892e1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

DP
type: SiteQuality
SIO_000300: 1.177312e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.172e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2792
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4656
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 468
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2359
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8086
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.91754288876591e-5
allele num: 14456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5744
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.397428731134712e-4
allele num: 7156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.760687372350165e-5
allele num: 56796
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.105216622458002e-4
allele num: 9048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

DP
type: SiteQuality
SIO_000300: 1.186576e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

QD
type: SiteQuality
SIO_000300: 1.061e1

GenotypeQuality
all individuals: 468
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 19556
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.758643733952376e-5
allele num: 56862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.916585973163646e-5
allele num: 14458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8106
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

DP
type: SiteQuality
SIO_000300: 1.191782e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 1.14e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

VQSLOD
type: SiteQuality
SIO_000300: 5.88e-1

GenotypeQuality
all individuals: 13618
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1080
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variant carriers: 0

GenotypeQuality
all individuals: 381
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variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.897503103876396e-5
allele num: 14498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5766
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8106
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 1.194909e6

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.74e-1

FS
type: SiteQuality
SIO_000300: 3.407e0

QD
type: SiteQuality
SIO_000300: 1.108e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 577
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4537
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21730
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.871907641561298e-5
allele num: 14552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5814
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.37324910738808e-4
allele num: 7282
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

FS
type: SiteQuality
SIO_000300: 6.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.44e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.041e0

DP
type: SiteQuality
SIO_000300: 1.217625e6

VQSLOD
type: SiteQuality
SIO_000300: 8.400000000000001e-2

GenotypeQuality
all individuals: 474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 382
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2808
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21482
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.371553970648745e-4
allele num: 14582
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.920894179527995e-5
allele num: 57796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.868e0

DP
type: SiteQuality
SIO_000300: 1.222078e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

QD
type: SiteQuality
SIO_000300: 1.018e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 4250
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23220
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variant carriers: 0

GenotypeQuality
all individuals: 3932
bin: 2.75e1
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GenotypeQuality
all individuals: 886
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.840881105486387e-5
allele num: 14618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5860
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.187e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 7.44e0

DP
type: SiteQuality
SIO_000300: 1.234835e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

GenotypeQuality
all individuals: 1170
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24534
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variant carriers: 0

GenotypeQuality
all individuals: 3665
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5896
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7448
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.703403399993186e-5
allele num: 58706
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.564e0

DP
type: SiteQuality
SIO_000300: 1.251882e6

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.141e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-1

QD
type: SiteQuality
SIO_000300: 1.044e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3549
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25157
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1578
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.057657293141817e-5
allele num: 59316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14720
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.329e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

DP
type: SiteQuality
SIO_000300: 1.275468e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

GenotypeQuality
all individuals: 1209
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1670
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3191
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.309512730173502e-5
allele num: 60172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6006
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.769e0

DP
type: SiteQuality
SIO_000300: 1.306715e6

QD
type: SiteQuality
SIO_000300: 1.211e1

FS
type: SiteQuality
SIO_000300: 3.7e0

GenotypeQuality
all individuals: 121
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2923
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 475
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8656
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14908
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.978048293753742e-5
allele num: 10022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60710
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.324795e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.402e-1

FS
type: SiteQuality
SIO_000300: 7.404e0

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.796e1

GenotypeQuality
all individuals: 2363
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 476
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14910
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8662
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.643871646501841e-5
allele num: 60832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7792
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.103e0

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

DP
type: SiteQuality
SIO_000300: 1.327185e6

FS
type: SiteQuality
SIO_000300: 1.931e0

QD
type: SiteQuality
SIO_000300: 9.66e0

VQSLOD
type: SiteQuality
SIO_000300: -7.69e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.543e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 951
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4028
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.792406713377872e-4
allele num: 61370
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14998
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 1.384e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.341624e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

GenotypeQuality
all individuals: 1551
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 477
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variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.621218507830485e-5
allele num: 61682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.659e0

FS
type: SiteQuality
SIO_000300: 7.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.01e-1

MQ
type: SiteQuality
SIO_000300: 5.01e1

QD
type: SiteQuality
SIO_000300: 3.83e0

VQSLOD
type: SiteQuality
SIO_000300: 3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.077e0

DP
type: SiteQuality
SIO_000300: 1.353327e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.33e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 31436
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6604
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.603283524658501e-5
allele num: 62372
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.272e1

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.382141e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

GenotypeQuality
all individuals: 1623
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 774
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GenotypeQuality
all individuals: 2363
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9020
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.584083132682803e-5
allele num: 63128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.30582397492818e-4
allele num: 15316
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.387e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.552e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

DP
type: SiteQuality
SIO_000300: 1.423411e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 1.056e1