3-47453150-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453150
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453150
    reference: chr 3
allele count: 2
allele frequency: 1.687735228097416e-5
allele num: 118502
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3862C>T
  hgvsp: ENST00000265562.4:c.3862C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3484C>T
  hgvsp: ENST00000431726.1:c.3484C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3539C>T
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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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: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3952
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu1288Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

3-47453152-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453152
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453152
    reference: chr 3
allele count: 1
allele frequency: 8.445375312478886e-6
allele num: 118408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3864G>A
  hgvsp: ENST00000265562.4:c.3864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3541G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3486G>A
  hgvsp: ENST00000431726.1:c.3486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
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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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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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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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3589
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 25635
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 559
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1288Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

3-47453156-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453156
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453156
    reference: chr 3
allele count: 1
allele frequency: 8.457231778894133e-6
allele num: 118242
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3868T>G
  hgvsp: ENSP00000265562.4:p.Ser1290Ala
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3490T>G
  hgvsp: ENSP00000387825.1:p.Ser1164Ala
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3545T>G
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 606
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genotype quality: GenotypeQuality
  all individuals: 8372
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  variant carriers: 1
hgvs: p.Ser1290Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

3-47453161-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453161
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453161
    reference: chr 3
allele count: 1
allele frequency: 8.477881207928515e-6
allele num: 117954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3495G>A
  hgvsp: ENST00000431726.1:c.3495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3550G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3873G>A
  hgvsp: ENST00000265562.4:c.3873G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  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
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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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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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 4.25e1
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genotype depth: GenotypeDepth
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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
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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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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8374
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu1291Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-47453169-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453169
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453169
    reference: chr 3
allele count: 2
allele frequency: 1.700535668735652e-5
allele num: 117610
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3558T>C
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3881T>C
  hgvsp: ENSP00000265562.4:p.Met1294Thr
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3503T>C
  hgvsp: ENSP00000387825.1:p.Met1168Thr
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8380
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7870
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met1294Thr
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: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS

3-47453169-TGGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453169
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453166
    reference: chr 3
allele count: 1
allele frequency: 8.502678343678259e-6
allele num: 117610
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3883_3885delGAG
  hgvsp: ENSP00000265562.4:p.Glu1295del
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3560_*3562delGAG
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3505_3507delGAG
  hgvsp: ENSP00000387825.1:p.Glu1169del
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7870
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8380
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu1295del
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: TGGA
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-47453170-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453170
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453170
    reference: chr 3
allele count: 1
allele frequency: 8.503256747334228e-6
allele num: 117602
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3882G>T
  hgvsp: ENSP00000265562.4:p.Met1294Ile
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3559G>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3504G>T
  hgvsp: ENSP00000387825.1:p.Met1168Ile
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8377
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7868
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3947
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3577
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met1294Ile
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-47453171-GAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453171
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453168
    reference: chr 3
allele count: 63
allele frequency: 5.363984674329502e-4
allele num: 117450
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3886_3888delAAG
  hgvsp: ENSP00000265562.4:p.Lys1296del
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3508_3510delAAG
  hgvsp: ENSP00000387825.1:p.Lys1170del
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3563_*3565delAAG
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 10021
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17331
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12814
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3943
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8439
  bin: 9.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys1296del
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: GAGA
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

3-47453185-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453185
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453186
    reference: chr 3
allele count: 1
allele frequency: 8.543211564091173e-6
allele num: 117052
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3510+14dupG
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3565+14dupG
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3888+14dupG
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7747
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8385
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23819
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-47453185-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453185
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453184
    reference: chr 3
allele count: 1
allele frequency: 8.543211564091173e-6
allele num: 117052
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3888+14delG
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3565+14delG
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3510+14delG
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23819
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 162
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genotype quality: GenotypeQuality
  all individuals: 3271
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
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genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7747
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: AG
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

3-47453185-AGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453185
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453183
    reference: chr 3
allele count: 2
allele frequency: 1.708642312818235e-5
allele num: 117052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3565+13_*3565+14delGG
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3510+13_3510+14delGG
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3888+13_3888+14delGG
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 920
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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: 8385
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: AGG
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

3-47453189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453189
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453189
    reference: chr 3
allele count: 5
allele frequency: 4.270803081811504e-5
allele num: 117074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3565+13G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3510+13G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3888+13G>A
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12752
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
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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
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 168
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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: 2909
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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: 3959
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 73
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

3-47453202-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453202
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453202
    reference: chr 3
allele count: 2
allele frequency: 1.717622810030917e-5
allele num: 116440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3510+26G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3888+26G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3565+26G>A
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10006
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

3-47453208-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453208
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453208
    reference: chr 3
allele count: 2
allele frequency: 1.720489307158956e-5
allele num: 116246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3565+32A>G
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3510+32A>G
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3888+32A>G
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2126
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 343
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genotype quality: GenotypeQuality
  all individuals: 165
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 165
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genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 89
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genotype quality: GenotypeQuality
  all individuals: 23764
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 250
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genotype quality: GenotypeQuality
  all individuals: 3139
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genotype quality: GenotypeQuality
  all individuals: 186
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genotype quality: GenotypeQuality
  all individuals: 3991
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genotype quality: GenotypeQuality
  all individuals: 8412
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1886
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

3-47453213-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453213
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453213
    reference: chr 3
allele count: 1
allele frequency: 8.607777988190129e-6
allele num: 116174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3565+37G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3510+37G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3888+37G>A
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10043
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8416
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

3-47453214-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453214
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453214
    reference: chr 3
allele count: 1
allele frequency: 8.608667206143144e-6
allele num: 116162
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3888+38G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3510+38G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3565+38G>A
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
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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
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
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genotype depth: GenotypeDepth
  all individuals: 122
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 23580
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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: 2945
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genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD

3-47453216-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453216
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453216
    reference: chr 3
allele count: 18529
allele frequency: 1.593481252149983e-1
allele num: 116280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3510+40G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3565+40G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3888+40G>A
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 7.25e1
  variant carriers: 1301
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 9.75e1
  variant carriers: 1453
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.75e1
  variant carriers: 1100
genotype depth: GenotypeDepth
  all individuals: 8344
  bin: 3.25e1
  variant carriers: 369
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 3.75e1
  variant carriers: 586
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 7.5e0
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 5.25e1
  variant carriers: 1395
genotype depth: GenotypeDepth
  all individuals: 14436
  bin: 2.75e1
  variant carriers: 321
genotype depth: GenotypeDepth
  all individuals: 923
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  variant carriers: 910
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 1.25e1
  variant carriers: 574
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 4.25e1
  variant carriers: 883
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 1.75e1
  variant carriers: 493
genotype depth: GenotypeDepth
  all individuals: 8575
  bin: 2.25e1
  variant carriers: 310
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 5.75e1
  variant carriers: 1631
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 537
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 8.75e1
  variant carriers: 740
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.75e1
  variant carriers: 1100
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 6.25e1
  variant carriers: 1599
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 6.75e1
  variant carriers: 1500
genotype quality: GenotypeQuality
  all individuals: 6164
  bin: 6.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 20331
  bin: 9.75e1
  variant carriers: 16520
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 8.25e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 9.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 8.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 1.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 18097
  bin: 6.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 7.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 7.75e1
  variant carriers: 42
num of homozygotes: 1736
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

3-47453217-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453217
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453217
    reference: chr 3
allele count: 1
allele frequency: 8.618163641691228e-6
allele num: 116034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3510+41T>C
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3888+41T>C
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3565+41T>C
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9683
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3934
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6513
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4456
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/3-47453225-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453225
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453225
    reference: chr 3
allele count: 55
allele frequency: 4.752358898143988e-4
allele num: 115732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3511-48C>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3566-48C>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3889-48C>A
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11789
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9738
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6534
  bin: 9.75e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23527
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8610
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

3-47453225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453225
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453225
    reference: chr 3
allele count: 2
allele frequency: 1.728130508415996e-5
allele num: 115732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3566-48C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3511-48C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3889-48C>T
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6534
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
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: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

3-47453233-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453233
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453233
    reference: chr 3
allele count: 1
allele frequency: 8.642295393656555e-6
allele num: 115710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3511-40C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3889-40C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3566-40C>T
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19692
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3939
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6481
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4443
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-47453236-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453236
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453236
    reference: chr 3
allele count: 4
allele frequency: 3.453515678961183e-5
allele num: 115824
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3889-37G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3511-37G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3566-37G>A
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11786
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6477
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23741
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 8644
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4439
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

3-47453242-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453242
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453242
    reference: chr 3
allele count: 1
allele frequency: 8.632745731107236e-6
allele num: 115838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3511-31C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3566-31C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3889-31C>T
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6472
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 819
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3942
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 355
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genotype quality: GenotypeQuality
  all individuals: 3068
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genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

3-47453245-GGTCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453245
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453241
    reference: chr 3
allele count: 1
allele frequency: 8.6229197206174e-6
allele num: 115970
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3566-23_*3566-20delGTCT
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3511-23_3511-20delGTCT
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3889-23_3889-20delGTCT
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19747
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3940
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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: 4450
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genotype quality: GenotypeQuality
  all individuals: 23908
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: GGTCT
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

3-47453254-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453254
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453254
    reference: chr 3
allele count: 1
allele frequency: 8.602890571231935e-6
allele num: 116240
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3889-19T>C
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3566-19T>C
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3511-19T>C
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 10299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
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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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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 19804
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6473
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

3-47453254-T-TGGCTTATCTGTCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453254
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453268
    reference: chr 3
allele count: 1
allele frequency: 8.602890571231935e-6
allele num: 116240
alternate allele: TGGCTTATCTGTCCC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6473
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4445
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

3-47453258-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453258
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453258
    reference: chr 3
allele count: 2
allele frequency: 1.718715088599763e-5
allele num: 116366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3566-15T>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3889-15T>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3511-15T>A
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24448
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8715
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6473
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-47453258-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453258
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453258
    reference: chr 3
allele count: 1
allele frequency: 8.593575442998814e-6
allele num: 116366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3566-15T>C
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3511-15T>C
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3889-15T>C
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3951
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 369
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3198
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genotype quality: GenotypeQuality
  all individuals: 65
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genotype quality: GenotypeQuality
  all individuals: 6473
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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: 2013
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-47453260-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453260
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453260
    reference: chr 3
allele count: 1
allele frequency: 8.592098706029935e-6
allele num: 116386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3566-13A>C
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3889-13A>C
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3511-13A>C
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 57
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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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
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genotype quality: GenotypeQuality
  all individuals: 710
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8722
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

3-47453264-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453264
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453264
    reference: chr 3
allele count: 1
allele frequency: 8.581039335484314e-6
allele num: 116536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3511-9G>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3889-9G>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3566-9G>T
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10668
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8730
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4453
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

3-47453266-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453266
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453266
    reference: chr 3
allele count: 2
allele frequency: 1.716207867096863e-5
allele num: 116536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3566-7C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3511-7C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3889-7C>T
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10727
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 730
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6470
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 116
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4452
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24667
  bin: 6.25e1
  variant carriers: 0
hgvs: c.3889-7C>T
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

3-47453274-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453274
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453274
    reference: chr 3
allele count: 3
allele frequency: 2.56213169356905e-5
allele num: 117090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3567A>G
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3512A>G
  hgvsp: ENSP00000387825.1:p.Gln1171Arg
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3890A>G
  hgvsp: ENSP00000265562.4:p.Gln1297Arg
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20001
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11816
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2641
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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
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln1297Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

3-47453283-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453283
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453283
    reference: chr 3
allele count: 1
allele frequency: 8.515566455480618e-6
allele num: 117432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3576C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3899C>T
  hgvsp: ENSP00000265562.4:p.Ala1300Val
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3521C>T
  hgvsp: ENSP00000387825.1:p.Ala1174Val
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11415
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 26
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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
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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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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3200
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genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2013
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8804
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala1300Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

3-47453285-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453285
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453285
    reference: chr 3
allele count: 26
allele frequency: 2.211109977208559e-4
allele num: 117588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3578C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3901C>T
  hgvsp: ENSP00000265562.4:p.Arg1301Cys
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3523C>T
  hgvsp: ENSP00000387825.1:p.Arg1175Cys
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 11579
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3964
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6483
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1301Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

3-47453286-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453286
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453286
    reference: chr 3
allele count: 1
allele frequency: 8.487811502682149e-6
allele num: 117816
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3902G>A
  hgvsp: ENSP00000265562.4:p.Arg1301His
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3524G>A
  hgvsp: ENSP00000387825.1:p.Arg1175His
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3579G>A
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11850
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8868
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6458
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3978
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 4463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg1301His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

3-47453299-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453299
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453299
    reference: chr 3
allele count: 5
allele frequency: 4.203164141966072e-5
allele num: 118958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3537C>T
  hgvsp: ENST00000431726.1:c.3537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3592C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3915C>T
  hgvsp: ENST00000265562.4:c.3915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12704
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 88
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 265
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 27116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6460
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Thr1305Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

3-47453300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453300
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453300
    reference: chr 3
allele count: 1
allele frequency: 8.38940250675347e-6
allele num: 119198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3538G>A
  hgvsp: ENSP00000387825.1:p.Glu1180Lys
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3593G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3916G>A
  hgvsp: ENSP00000265562.4:p.Glu1306Lys
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20745
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6456
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 4490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu1306Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

3-47453302-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453302
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453302
    reference: chr 3
allele count: 2
allele frequency: 1.675603217158177e-5
allele num: 119360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3595G>C
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3540G>C
  hgvsp: ENSP00000387825.1:p.Glu1180Asp
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3918G>C
  hgvsp: ENSP00000265562.4:p.Glu1306Asp
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6456
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu1306Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

3-47453307-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453307
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453307
    reference: chr 3
allele count: 1
allele frequency: 8.359107247345984e-6
allele num: 119630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3545G>A
  hgvsp: ENSP00000387825.1:p.Gly1182Asp
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3923G>A
  hgvsp: ENSP00000265562.4:p.Gly1308Asp
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3600G>A
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 192
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6454
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly1308Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

3-47453308-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453308
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453308
    reference: chr 3
allele count: 26
allele frequency: 2.172278385830061e-4
allele num: 119690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3546C>T
  hgvsp: ENST00000431726.1:c.3546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3601C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3924C>T
  hgvsp: ENST00000265562.4:c.3924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20914
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11972
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13247
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27905
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6475
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4487
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 66
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genotype quality: GenotypeQuality
  all individuals: 4033
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly1308Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

3-47453313-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453313
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453313
    reference: chr 3
allele count: 1
allele frequency: 8.336390009670212e-6
allele num: 119956
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3606C>G
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3929C>G
  hgvsp: ENSP00000265562.4:p.Pro1310Arg
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3551C>G
  hgvsp: ENSP00000387825.1:p.Pro1184Arg
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 172
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 821
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6450
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro1310Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

3-47453323-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453323
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453323
    reference: chr 3
allele count: 7
allele frequency: 5.821593120540244e-5
allele num: 120242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3616C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3561C>T
  hgvsp: ENST00000431726.1:c.3561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3939C>T
  hgvsp: ENST00000265562.4:c.3939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
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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: 524
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 12024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4508
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 6456
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His1313His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-47453324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453324
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453324
    reference: chr 3
allele count: 1
allele frequency: 8.315040244794785e-6
allele num: 120264
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3940G>A
  hgvsp: ENSP00000265562.4:p.Gly1314Ser
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3562G>A
  hgvsp: ENSP00000387825.1:p.Gly1188Ser
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3617G>A
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 71
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4507
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genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 658
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 71
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genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly1314Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

3-47453328-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453328
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453328
    reference: chr 3
allele count: 1
allele frequency: 8.310479514667997e-6
allele num: 120330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3566C>T
  hgvsp: ENSP00000387825.1:p.Ala1189Val
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3944C>T
  hgvsp: ENSP00000265562.4:p.Ala1315Val
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3621C>T
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28423
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3220
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4510
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1315Val
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

3-47453329-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453329
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453329
    reference: chr 3
allele count: 1
allele frequency: 8.308546170591069e-6
allele num: 120358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3945C>T
  hgvsp: ENST00000265562.4:c.3945C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3622C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3567C>T
  hgvsp: ENST00000431726.1:c.3567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 42
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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: 59
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 4058
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9159
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genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6452
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala1315Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

3-47453340-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453340
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453340
    reference: chr 3
allele count: 501
allele frequency: 4.159609445053303e-3
allele num: 120444
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3956C>T
  hgvsp: ENSP00000265562.4:p.Ala1319Val
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3578C>T
  hgvsp: ENSP00000387825.1:p.Ala1193Val
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3633C>T
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 11993
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 21211
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13150
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9098
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28206
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6838
  bin: 9.75e1
  variant carriers: 483
hgvs: p.Ala1319Val
num of homozygotes: 13
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

3-47453345-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453345
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453345
    reference: chr 3
allele count: 4
allele frequency: 3.320273590543861e-5
allele num: 120472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3583A>T
  hgvsp: ENSP00000387825.1:p.Ser1195Cys
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3638A>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3961A>T
  hgvsp: ENSP00000265562.4:p.Ser1321Cys
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6410
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4506
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genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4066
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1321Cys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

3-47453351-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453351
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453351
    reference: chr 3
allele count: 7
allele frequency: 5.808453789601208e-5
allele num: 120514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3644G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3967G>A
  hgvsp: ENSP00000265562.4:p.Val1323Ile
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3589G>A
  hgvsp: ENSP00000387825.1:p.Val1197Ile
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12077
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6408
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28465
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val1323Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

3-47453354-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453354
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453354
    reference: chr 3
allele count: 2
allele frequency: 1.65953068472236e-5
allele num: 120516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3647C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3970C>T
  hgvsp: ENSP00000265562.4:p.Arg1324Cys
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3592C>T
  hgvsp: ENSP00000387825.1:p.Arg1198Cys
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4065
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 3214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 559
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genotype quality: GenotypeQuality
  all individuals: 28426
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 9142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6401
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg1324Cys
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-47453355-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453355
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453355
    reference: chr 3
allele count: 2
allele frequency: 1.659613310098747e-5
allele num: 120510
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3971G>A
  hgvsp: ENSP00000265562.4:p.Arg1324His
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3648G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3593G>A
  hgvsp: ENSP00000387825.1:p.Arg1198His
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12061
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4066
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6398
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1324His
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

3-47453362-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453362
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453362
    reference: chr 3
allele count: 9
allele frequency: 7.467268473192506e-5
allele num: 120526
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3978C>T
  hgvsp: ENST00000265562.4:c.3978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3600C>T
  hgvsp: ENST00000431726.1:c.3600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3655C>T
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6397
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 4062
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr1326Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

3-47453363-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453363
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453363
    reference: chr 3
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3979G>A
  hgvsp: ENSP00000265562.4:p.Glu1327Lys
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3656G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3601G>A
  hgvsp: ENSP00000387825.1:p.Glu1201Lys
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 4492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 28442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4066
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6390
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu1327Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-47453372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453372
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453372
    reference: chr 3
allele count: 100
allele frequency: 8.301648707433296e-4
allele num: 120458
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3988G>A
  hgvsp: ENSP00000265562.4:p.Val1330Met
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3665G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3610G>A
  hgvsp: ENSP00000387825.1:p.Val1204Met
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21284
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11999
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 6443
  bin: 9.75e1
  variant carriers: 100
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9098
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 3195
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1994
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genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 4063
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val1330Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

3-47453376-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453376
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453376
    reference: chr 3
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3669A>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3992A>T
  hgvsp: ENSP00000265562.4:p.Glu1331Val
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3614A>T
  hgvsp: ENSP00000387825.1:p.Glu1205Val
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6358
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu1331Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ

3-47453378-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453378
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453378
    reference: chr 3
allele count: 2
allele frequency: 1.660357308892874e-5
allele num: 120456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3671C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3616C>T
  hgvsp: ENSP00000387825.1:p.Arg1206Cys
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3994C>T
  hgvsp: ENSP00000265562.4:p.Arg1332Cys
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21270
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  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
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 13316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6359
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
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genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 641
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genotype quality: GenotypeQuality
  all individuals: 4063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 28164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9092
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg1332Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

3-47453380-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453380
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453380
    reference: chr 3
allele count: 2
allele frequency: 1.660715768496222e-5
allele num: 120430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3673C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3618C>T
  hgvsp: ENST00000431726.1:c.3618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3996C>T
  hgvsp: ENST00000265562.4:c.3996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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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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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4488
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 4062
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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: 1656
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1332Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

3-47453381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453381
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453381
    reference: chr 3
allele count: 1
allele frequency: 8.304682179812978e-6
allele num: 120414
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.3997G>A
  hgvsp: ENSP00000265562.4:p.Val1333Met
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3674G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3619G>A
  hgvsp: ENSP00000387825.1:p.Val1207Met
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11938
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.25e1
  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
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 39
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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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
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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: 6355
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genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28278
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val1333Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

3-47453388-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453388
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453388
    reference: chr 3
allele count: 1
allele frequency: 8.306475728477921e-6
allele num: 120388
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4004G>C
  hgvsp: ENSP00000265562.4:p.Ser1335Thr
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3681G>C
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3626G>C
  hgvsp: ENSP00000387825.1:p.Ser1209Thr
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
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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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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6353
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4047
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser1335Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-47453391-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453391
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453391
    reference: chr 3
allele count: 1
allele frequency: 8.30923654734603e-6
allele num: 120348
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4007T>C
  hgvsp: ENSP00000265562.4:p.Leu1336Pro
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3684T>C
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3629T>C
  hgvsp: ENSP00000387825.1:p.Leu1210Pro
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
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genotype quality: GenotypeQuality
  all individuals: 740
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 9041
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6348
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu1336Pro
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

3-47453399-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453399
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453399
    reference: chr 3
allele count: 1
allele frequency: 8.316423272678886e-6
allele num: 120244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3692C>G
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3637C>G
  hgvsp: ENSP00000387825.1:p.Arg1213Gly
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4015C>G
  hgvsp: ENSP00000265562.4:p.Arg1339Gly
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6342
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 27808
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genotype quality: GenotypeQuality
  all individuals: 177
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genotype quality: GenotypeQuality
  all individuals: 4008
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genotype quality: GenotypeQuality
  all individuals: 8978
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genotype quality: GenotypeQuality
  all individuals: 4441
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1339Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

3-47453403-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453403
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453403
    reference: chr 3
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3641A>G
  hgvsp: ENSP00000387825.1:p.Asp1214Gly
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3696A>G
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4019A>G
  hgvsp: ENSP00000265562.4:p.Asp1340Gly
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21025
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4428
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
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  variant carriers: 0
genotype quality: GenotypeQuality
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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: 1655
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6339
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp1340Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

3-47453417-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453417
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453417
    reference: chr 3
allele count: 11
allele frequency: 9.193942028016449e-5
allele num: 119644
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4033C>T
  hgvsp: ENSP00000265562.4:p.Arg1345Cys
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3710C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3655C>T
  hgvsp: ENSP00000387825.1:p.Arg1219Cys
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11609
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6338
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg1345Cys
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

3-47453418-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453418
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453418
    reference: chr 3
allele count: 2
allele frequency: 1.672744304305644e-5
allele num: 119564
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4034G>A
  hgvsp: ENSP00000265562.4:p.Arg1345His
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3711G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3656G>A
  hgvsp: ENSP00000387825.1:p.Arg1219His
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12598
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20462
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6330
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg1345His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

3-47453420-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453420
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453420
    reference: chr 3
allele count: 1
allele frequency: 8.363161944267889e-6
allele num: 119572
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4036T>G
  hgvsp: ENSP00000265562.4:p.Ser1346Ala
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3713T>G
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3658T>G
  hgvsp: ENSP00000387825.1:p.Ser1220Ala
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6326
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
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genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4365
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser1346Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-47453427-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453427
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453427
    reference: chr 3
allele count: 1
allele frequency: 8.38447865311735e-6
allele num: 119268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3665T>C
  hgvsp: ENSP00000387825.1:p.Val1222Ala
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3720T>C
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4043T>C
  hgvsp: ENSP00000265562.4:p.Val1348Ala
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1983
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genotype quality: GenotypeQuality
  all individuals: 3878
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25647
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genotype quality: GenotypeQuality
  all individuals: 6323
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genotype quality: GenotypeQuality
  all individuals: 8595
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genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1348Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

3-47453432-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453432
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453432
    reference: chr 3
allele count: 4
allele frequency: 3.359312012899758e-5
allele num: 119072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3670C>T
  hgvsp: ENST00000431726.1:c.3670C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3725C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4048C>T
  hgvsp: ENST00000265562.4:c.4048C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11250
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19807
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8485
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6318
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu1350Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

3-47453436-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453436
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453436
    reference: chr 3
allele count: 1
allele frequency: 8.408731626921395e-6
allele num: 118924
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4052A>G
  hgvsp: ENSP00000265562.4:p.His1351Arg
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3729A>G
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3674A>G
  hgvsp: ENSP00000387825.1:p.His1225Arg
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19548
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6311
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His1351Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

3-47453440-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453440
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453440
    reference: chr 3
allele count: 1
allele frequency: 8.422187410514259e-6
allele num: 118734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3733C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4056C>T
  hgvsp: ENST00000265562.4:c.4056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3678C>T
  hgvsp: ENST00000431726.1:c.3678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24254
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6310
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe1352Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

3-47453443-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453443
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453443
    reference: chr 3
allele count: 2
allele frequency: 1.685686833100147e-5
allele num: 118646
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4059C>T
  hgvsp: ENST00000265562.4:c.4059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3736C>T
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3681C>T
  hgvsp: ENST00000431726.1:c.3681C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
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genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 672
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
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genotype quality: GenotypeQuality
  all individuals: 6306
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro1353Pro
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

3-47453446-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453446
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453446
    reference: chr 3
allele count: 12
allele frequency: 1.012521516082217e-4
allele num: 118516
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4062T>G
  hgvsp: ENST00000265562.4:c.4062T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3684T>G
  hgvsp: ENST00000431726.1:c.3684T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3739T>G
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18882
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6312
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 8096
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr1354Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-47453452-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453452
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453452
    reference: chr 3
allele count: 1
allele frequency: 8.455372543714276e-6
allele num: 118268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3690T>A
  hgvsp: ENST00000431726.1:c.3690T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3745T>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4068T>A
  hgvsp: ENST00000265562.4:c.4068T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3652
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6298
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4111
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro1356Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

3-47453461-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453461
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453461
    reference: chr 3
allele count: 1
allele frequency: 8.471848048933394e-6
allele num: 118038
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4073+4A>G
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3750+4A>G
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3695+4A>G
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10537
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
hgvs: c.4073+4A>G
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

3-47453469-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453469
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453469
    reference: chr 3
allele count: 1
allele frequency: 8.495887990212738e-6
allele num: 117704
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3750+12G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3695+12G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4073+12G>A
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1603
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-47453475-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453475
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453475
    reference: chr 3
allele count: 1
allele frequency: 8.50933474021001e-6
allele num: 117518
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3695+18G>C
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3750+18G>C
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4073+18G>C
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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 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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP

3-47453478-GGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453478
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453476
    reference: chr 3
allele count: 3
allele frequency: 2.557370341323695e-5
allele num: 117308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3695+23_3695+24delTG
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4073+23_4073+24delTG
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3750+23_*3750+24delTG
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9999
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6282
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: GGT
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

3-47453479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47453479
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47453479
    reference: chr 3
allele count: 1
allele frequency: 8.519338899301415e-6
allele num: 117380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000265562
  ensembl transcript: ENST00000265562
  gene symbol: PTPN23
  hgvsc: ENST00000265562.4:c.4073+22G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000473266
  ensembl transcript: ENST00000602307
  gene symbol: PTPN23
  hgvsc: ENST00000602307.1:c.*3750+22G>A
  variant of: http://identifiers.org/hgnc/14406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076201
  ensembl protein: ENSP00000387825
  ensembl transcript: ENST00000431726
  gene symbol: PTPN23
  hgvsc: ENST00000431726.1:c.3695+22G>A
  variant of: http://identifiers.org/hgnc/14406
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5095
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9923
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6279
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
reference allele: G

GenotypeQuality
all individuals: 8373
bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15578
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
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: 2
allele frequency: 3.068331748028597e-5
allele num: 65182
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.197e1

FS
type: SiteQuality
SIO_000300: 1.222e0

VQSLOD
type: SiteQuality
SIO_000300: 9.89e-1

DP
type: SiteQuality
SIO_000300: 1.827297e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.099e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1879
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534307106910519e-5
allele num: 65176
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15488
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.822559e6

QD
type: SiteQuality
SIO_000300: 1.407e1

FS
type: SiteQuality
SIO_000300: 5.952e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

VQSLOD
type: SiteQuality
SIO_000300: 6.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

GenotypeQuality
all individuals: 2896
bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535202186127913e-5
allele num: 65138
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.475e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

DP
type: SiteQuality
SIO_000300: 1.817885e6

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

GenotypeQuality
all individuals: 1883
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
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: 1
allele frequency: 1.535768037595602e-5
allele num: 65114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15118
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.855e1

DP
type: SiteQuality
SIO_000300: 1.810277e6

FS
type: SiteQuality
SIO_000300: 1.206e0

QD
type: SiteQuality
SIO_000300: 1.594e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.562e0

VQSLOD
type: SiteQuality
SIO_000300: -1.906e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.69e-1

GenotypeQuality
all individuals: 192
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65040
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.737619461337967e-4
allele num: 11510
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14854
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.804e1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 1.800785e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

QD
type: SiteQuality
SIO_000300: 1.081e1

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

FS
type: SiteQuality
SIO_000300: 6.05e-1

GenotypeQuality
all individuals: 3575
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65040
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.732193348592971e-5
allele num: 14854
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

QD
type: SiteQuality
SIO_000300: 1.081e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

MQ
type: SiteQuality
SIO_000300: 5.804e1

FS
type: SiteQuality
SIO_000300: 6.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.49e-1

DP
type: SiteQuality
SIO_000300: 1.800785e6

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65048
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14838
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.633e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.495e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

DP
type: SiteQuality
SIO_000300: 1.801006e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 1.114e0

VQSLOD
type: SiteQuality
SIO_000300: 4.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.099e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 23738
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 8.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14706
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.606429192006951e-4
allele num: 11510
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: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 59
allele frequency: 9.071898640752814e-4
allele num: 65036
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

DP
type: SiteQuality
SIO_000300: 1.79668e6

QD
type: SiteQuality
SIO_000300: 1.649e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

MQ
type: SiteQuality
SIO_000300: 5.599e1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e0

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538082933431771e-5
allele num: 65016
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10122
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South Asian
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allele frequency: 0.0e0
allele num: 14340
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.077e1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.791867e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.59e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65016
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: 14340
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 862
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.077e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

DP
type: SiteQuality
SIO_000300: 1.791867e6

QD
type: SiteQuality
SIO_000300: 1.338e1

GenotypeQuality
all individuals: 178
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.394700139470014e-4
allele num: 14340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65016
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
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: 862
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.59e-1

MQ
type: SiteQuality
SIO_000300: 6.077e1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

DP
type: SiteQuality
SIO_000300: 1.791867e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

GenotypeQuality
all individuals: 7773
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.146659290675518e-5
allele num: 65076
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14296
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
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: 858
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African
type: Population
allele count: 1
allele frequency: 9.863878477017163e-5
allele num: 10138
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11498
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.98e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

FS
type: SiteQuality
SIO_000300: 3.18e0

DP
type: SiteQuality
SIO_000300: 1.790945e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.386e0

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

QD
type: SiteQuality
SIO_000300: 1.438e1

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13776
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539171925504079e-5
allele num: 64970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.43e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

FS
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.788901e6

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740038280842179e-4
allele num: 11494
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64948
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.518e1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 2.488e0

DP
type: SiteQuality
SIO_000300: 1.789096e6

VQSLOD
type: SiteQuality
SIO_000300: 4.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
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: 10130
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539645881447267e-5
allele num: 64950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.278e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.522e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.789102e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

GenotypeQuality
all individuals: 1889
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e0

DP
type: SiteQuality
SIO_000300: 1.789357e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.955e0

FS
type: SiteQuality
SIO_000300: 5.457e0

QD
type: SiteQuality
SIO_000300: 1.815e1

GenotypeQuality
all individuals: 2553
bin: 2.25e1
variant carriers: 18

European (Finnish)
type: Population
allele count: 1172
allele frequency: 1.774682010902483e-1
allele num: 6604
num of homozygotes: 101

African
type: Population
allele count: 1810
allele frequency: 1.785009861932939e-1
allele num: 10140
num of homozygotes: 171

Latino
type: Population
allele count: 851
allele frequency: 7.423237962316818e-2
allele num: 11464
num of homozygotes: 49

European (Non-Finnish)
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allele count: 13255
allele frequency: 2.038917089678511e-1
allele num: 65010
num of homozygotes: 1342

South Asian
type: Population
allele count: 1299
allele frequency: 9.543050249779607e-2
allele num: 13612
num of homozygotes: 62

Other
type: Population
allele count: 139
allele frequency: 1.612529002320185e-1
allele num: 862
num of homozygotes: 11

East Asian
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allele count: 3
allele frequency: 3.493246390312063e-4
allele num: 8588
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.23e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.839e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

QD
type: SiteQuality
SIO_000300: 1.696e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.269521e6

GenotypeQuality
all individuals: 3209
bin: 8.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540832049306625e-5
allele num: 64900
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.760132e6

QD
type: SiteQuality
SIO_000300: 1.326e1

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

East Asian
type: Population
allele count: 55
allele frequency: 6.41025641025641e-3
allele num: 8580
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: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13262
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

DP
type: SiteQuality
SIO_000300: 1.761178e6

QD
type: SiteQuality
SIO_000300: 1.31e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

GenotypeQuality
all individuals: 23527
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.085372250161982e-5
allele num: 64822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

Other
type: Population
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South Asian
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10120
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

DP
type: SiteQuality
SIO_000300: 1.761178e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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BaseQRankSum
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QD
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
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num of homozygotes: 0

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

East Asian
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South Asian
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allele frequency: 3.004356316659156e-4
allele num: 13314
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FS
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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QD
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DP
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 64902
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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East Asian
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South Asian
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Other
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MQRankSum
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
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DP
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GenotypeQuality
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variant carriers: 1

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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QD
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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MQ
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ClippingRankSum
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FS
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
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South Asian
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allele frequency: 0.0e0
allele num: 13534
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 9.854158454867954e-5
allele num: 10148
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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Latino
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VQSLOD
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QD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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FS
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MQ
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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European (Non-Finnish)
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allele frequency: 1.538130248869474e-5
allele num: 65014
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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Other
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East Asian
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African
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South Asian
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65018
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East Asian
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allele frequency: 2.326663564448581e-4
allele num: 8596
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African
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Latino
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Other
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ClippingRankSum
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QD
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MQ
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DP
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MQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65018
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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East Asian
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allele frequency: 1.16333178222429e-4
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South Asian
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Other
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QD
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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num of homozygotes: 0

East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.537657225451303e-5
allele num: 65034
num of homozygotes: 0

FS
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BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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GenotypeQuality
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East Asian
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South Asian
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Latino
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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MQRankSum
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FS
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ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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ClippingRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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QD
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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East Asian
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Other
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Latino
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European (Non-Finnish)
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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Latino
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Other
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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DP
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ClippingRankSum
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MQ
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GenotypeQuality
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Other
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European (Non-Finnish)
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East Asian
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South Asian
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Latino
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African
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European (Finnish)
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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SIO_000300: 1.274e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 1.787945e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14668
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65378
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 6.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

DP
type: SiteQuality
SIO_000300: 1.789652e6

QD
type: SiteQuality
SIO_000300: 1.199e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

African
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allele count: 3
allele frequency: 2.941753284957835e-4
allele num: 10198
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5220700152207e-5
allele num: 65700
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

South Asian
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allele frequency: 6.476683937823834e-5
allele num: 15440
num of homozygotes: 0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.123e1

FS
type: SiteQuality
SIO_000300: 5.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

DP
type: SiteQuality
SIO_000300: 1.809761e6

GenotypeQuality
all individuals: 9027
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65768
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.798157946306095e-5
allele num: 10206
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15594
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.81203e6

MQRankSum
type: SiteQuality
SIO_000300: 1.94e0

QD
type: SiteQuality
SIO_000300: 1.095e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.07e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: -9.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

FS
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.67e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.038682427299523e-5
allele num: 65818
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

DP
type: SiteQuality
SIO_000300: 1.81429e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

FS
type: SiteQuality
SIO_000300: 2.724e0

VQSLOD
type: SiteQuality
SIO_000300: 6.860000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.354e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.461e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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: 15892
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.782821365681862e-5
allele num: 10222
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65872
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.319e0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.8183e6

FS
type: SiteQuality
SIO_000300: 1.904e0

QD
type: SiteQuality
SIO_000300: 1.197e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65876
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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: 24
allele frequency: 1.506024096385542e-3
allele num: 15936
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.22e-1

DP
type: SiteQuality
SIO_000300: 1.820124e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.173e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

GenotypeQuality
all individuals: 4041
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
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: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.215813028344107e-5
allele num: 16088
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65964
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

DP
type: SiteQuality
SIO_000300: 1.823049e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.135e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.562e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

QD
type: SiteQuality
SIO_000300: 1.014e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.059642749016046e-4
allele num: 66060
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

DP
type: SiteQuality
SIO_000300: 1.827244e6

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.215e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.64e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514004542013626e-5
allele num: 66050
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

DP
type: SiteQuality
SIO_000300: 1.827208e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

FS
type: SiteQuality
SIO_000300: 1.198e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.362e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66064
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.411e1

MQ
type: SiteQuality
SIO_000300: 5.907e1

VQSLOD
type: SiteQuality
SIO_000300: 3.78e-1

FS
type: SiteQuality
SIO_000300: 2.288e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.972e0

DP
type: SiteQuality
SIO_000300: 1.827847e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.45e-1

GenotypeQuality
all individuals: 4511
bin: 7.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 9.738994935722633e-5
allele num: 10268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66078
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.016e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.827899e6

MQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.907e1

QD
type: SiteQuality
SIO_000300: 2.844e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
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allele frequency: 2.237259205071934e-2
allele num: 16404
num of homozygotes: 13

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 5.202011444425178e-4
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.079628340546594e-5
allele num: 66082
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 6.666666666666667e-3
allele num: 900
num of homozygotes: 0

East Asian
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allele count: 116
allele frequency: 1.343214451134785e-2
allele num: 8636
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.47e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.848168e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.720062208398134e-5
allele num: 10288
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.539951573849879e-5
allele num: 66080
num of homozygotes: 0

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

East Asian
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.564067653021088e-5
allele num: 66102
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Other
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South Asian
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allele frequency: 6.086427267194157e-5
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FS
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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QD
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MQ
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
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Other
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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European (Non-Finnish)
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allele frequency: 3.025901718712176e-5
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DP
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MQ
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FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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Latino
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allele frequency: 8.671522719389525e-5
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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FS
type: SiteQuality
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DP
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VQSLOD
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GenotypeQuality
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variant carriers: 0

African
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 6.05052185751021e-5
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Other
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European (Finnish)
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DP
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.512721991952319e-5
allele num: 66106
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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South Asian
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African
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Other
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ReadPosRankSum
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QD
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BaseQRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
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MQ
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DP
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.088e0

GenotypeQuality
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variant carriers: 0

African
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allele num: 10298
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 2.167504768510491e-3
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East Asian
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allele frequency: 1.853138753764188e-3
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Other
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European (Non-Finnish)
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allele count: 58
allele frequency: 8.774849465944507e-4
allele num: 66098
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South Asian
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MQ
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

FS
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

DP
type: SiteQuality
SIO_000300: 1.826917e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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South Asian
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Other
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BaseQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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VQSLOD
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DP
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MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele frequency: 1.512813530604218e-5
allele num: 66102
num of homozygotes: 0

Latino
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East Asian
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African
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South Asian
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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DP
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ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
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MQ
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

East Asian
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allele num: 8636
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele num: 66092
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Other
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African
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Latino
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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DP
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VQSLOD
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MQ
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QD
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

African
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European (Finnish)
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European (Non-Finnish)
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Other
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Latino
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South Asian
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East Asian
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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FS
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DP
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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South Asian
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East Asian
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Other
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African
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European (Non-Finnish)
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allele num: 66072
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Latino
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num of homozygotes: 0

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

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

European (Non-Finnish)
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num of homozygotes: 0

MQ
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BaseQRankSum
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DP
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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Other
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European (Finnish)
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Latino
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South Asian
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African
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European (Non-Finnish)
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East Asian
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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DP
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MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -2.115e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
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allele count: 3
allele frequency: 1.889406726287946e-4
allele num: 15878
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 6
allele frequency: 9.111617312072893e-5
allele num: 65850
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.939487975174554e-4
allele num: 10312
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

FS
type: SiteQuality
SIO_000300: 5.47e-1

DP
type: SiteQuality
SIO_000300: 1.796709e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

QD
type: SiteQuality
SIO_000300: 1.213e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.703085581214826e-5
allele num: 10306
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.318716036901302e-5
allele num: 15826
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65826
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.015e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.792765e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.73e-1

QD
type: SiteQuality
SIO_000300: 1.362e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10308
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.519018106695832e-5
allele num: 65832
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15824
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.791912e6

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.019e0

VQSLOD
type: SiteQuality
SIO_000300: -6.263e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.98e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520635017183176e-5
allele num: 65762
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15616
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 2.227e0

DP
type: SiteQuality
SIO_000300: 1.779416e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.482e0

QD
type: SiteQuality
SIO_000300: 1.178e1

GenotypeQuality
all individuals: 236
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.0882800608828e-5
allele num: 65700
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.925e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 1.404e1

FS
type: SiteQuality
SIO_000300: 1.112e0

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

DP
type: SiteQuality
SIO_000300: 1.77217e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15392
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65658
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.763601e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.26e-1

QD
type: SiteQuality
SIO_000300: 1.034e1

MQ
type: SiteQuality
SIO_000300: 5.917e1

GenotypeQuality
all individuals: 282
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15278
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524669146795145e-5
allele num: 65588
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.512e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.259e0

DP
type: SiteQuality
SIO_000300: 1.758431e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e-1

FS
type: SiteQuality
SIO_000300: 2.269e0

QD
type: SiteQuality
SIO_000300: 1.552e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.049803287687944e-5
allele num: 65578
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15228
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.189e1

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

FS
type: SiteQuality
SIO_000300: 2.151e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 1.755837e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11510
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)
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allele count: 12
allele frequency: 1.831334126911455e-4
allele num: 65526
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 5.0e-4

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

FS
type: SiteQuality
SIO_000300: 4.164e0

DP
type: SiteQuality
SIO_000300: 1.746102e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
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South Asian
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allele count: 1
allele frequency: 6.656903208627346e-5
allele num: 15022
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.363e0

MQRankSum
type: SiteQuality
SIO_000300: -9.65e-1

DP
type: SiteQuality
SIO_000300: 1.737002e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65370
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.706908115358819e-5
allele num: 14910
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.75e-1

DP
type: SiteQuality
SIO_000300: 1.724201e6

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65258
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

African
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allele frequency: 9.777082518576456e-5
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East Asian
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.821282401091406e-5
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65196
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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DP
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 14564
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.607304112786805e-5
allele num: 65114
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African
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.165e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

QD
type: SiteQuality
SIO_000300: 2.367e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

DP
type: SiteQuality
SIO_000300: 1.684044e6

GenotypeQuality
all individuals: 1600
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65162
num of homozygotes: 0