2-48722797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722797
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722797
    reference: chr 2
allele count: 1
allele frequency: 8.279653579294243e-6
allele num: 120778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1474-21C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1600-21C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1424-21C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*293-21C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2835C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1600-21C>T
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

2-48722800-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722800
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722800
    reference: chr 2
allele count: 2
allele frequency: 1.654971534489607e-5
allele num: 120848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1600-18A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*293-18A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2832A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1424-18A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1600-18A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1474-18A>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10904
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 6595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-48722803-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722803
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722803
    reference: chr 2
allele count: 1
allele frequency: 8.268836409340477e-6
allele num: 120936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1424-15A>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1600-15A>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*293-15A>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1600-15A>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1474-15A>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2829A>T
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10907
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  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: 589
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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
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

2-48722805-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722805
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722805
    reference: chr 2
allele count: 3
allele frequency: 2.480076717039781e-5
allele num: 120964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1474-13G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*293-13G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1600-13G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1600-13G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2827G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1424-13G>T
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

2-48722807-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722807
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722807
    reference: chr 2
allele count: 182
allele frequency: 1.504206820172901e-3
allele num: 120994
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*293-11T>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1474-11T>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2825T>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1600-11T>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1600-11T>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1424-11T>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15475
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10897
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 29262
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6596
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-48722815-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722815
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722815
    reference: chr 2
allele count: 2
allele frequency: 1.650846058605035e-5
allele num: 121150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1600-3T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2817T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1600-3T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1424-3T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*293-3T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1474-3T>C
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1600-3T>C
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

2-48722818-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722818
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722818
    reference: chr 2
allele count: 2
allele frequency: 1.650410126916539e-5
allele num: 121182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1424C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*293C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1600C>T
  hgvsp: ENSP00000281394.4:p.Pro534Ser
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1474C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1600C>T
  hgvsp: ENSP00000294952.8:p.Pro534Ser
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2814C>T
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro534Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-48722821-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722821
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722821
    reference: chr 2
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*296C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1427C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1603C>G
  hgvsp: ENSP00000281394.4:p.Leu535Val
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2811C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1603C>G
  hgvsp: ENSP00000294952.8:p.Leu535Val
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1477C>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu535Val
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

2-48722822-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722822
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722822
    reference: chr 2
allele count: 3
allele frequency: 2.474757473767571e-5
allele num: 121224
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1604T>C
  hgvsp: ENSP00000294952.8:p.Leu535Pro
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1478T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2810T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1604T>C
  hgvsp: ENSP00000281394.4:p.Leu535Pro
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1428T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*297T>C
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu535Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

2-48722835-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722835
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722835
    reference: chr 2
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1491G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1441G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1617G>A
  hgvsp: ENST00000281394.4:c.1617G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*310G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1617G>A
  hgvsp: ENST00000294952.8:c.1617G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2797G>A
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val539Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-48722835-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722835
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722835
    reference: chr 2
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1617G>T
  hgvsp: ENST00000281394.4:c.1617G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1491G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1441G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*310G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1617G>T
  hgvsp: ENST00000294952.8:c.1617G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2797G>T
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val539Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/2-48722847-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722847
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722847
    reference: chr 2
allele count: 3
allele frequency: 2.473125370968806e-5
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1503A>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1453A>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1629A>C
  hgvsp: ENSP00000294952.8:p.Glu543Asp
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*322A>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1629A>C
  hgvsp: ENSP00000281394.4:p.Glu543Asp
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2785A>C
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu543Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

2-48722848-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722848
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722848
    reference: chr 2
allele count: 4
allele frequency: 3.297500494625074e-5
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1454G>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2784G>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1630G>C
  hgvsp: ENSP00000281394.4:p.Ala544Pro
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1504G>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1630G>C
  hgvsp: ENSP00000294952.8:p.Ala544Pro
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*323G>C
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10930
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala544Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

2-48722859-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722859
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722859
    reference: chr 2
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1641C>G
  hgvsp: ENSP00000281394.4:p.Asn547Lys
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1641C>G
  hgvsp: ENSP00000294952.8:p.Asn547Lys
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1515C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*334C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2773C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1465C>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn547Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-48722860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722860
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722860
    reference: chr 2
allele count: 3
allele frequency: 2.472473132458627e-5
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1642C>T
  hgvsp: ENSP00000294952.8:p.Arg548Cys
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*335C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2772C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1642C>T
  hgvsp: ENSP00000281394.4:p.Arg548Cys
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1466C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1516C>T
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 47888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg548Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

2-48722861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722861
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722861
    reference: chr 2
allele count: 2
allele frequency: 1.648315421639085e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2771G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1643G>A
  hgvsp: ENSP00000294952.8:p.Arg548His
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1643G>A
  hgvsp: ENSP00000281394.4:p.Arg548His
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*336G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1517G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1467G>A
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10950
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg548His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

2-48722863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722863
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722863
    reference: chr 2
allele count: 9
allele frequency: 7.417297136923305e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1469C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1645C>T
  hgvsp: ENSP00000281394.4:p.Arg549Cys
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2769C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*338C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1519C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1645C>T
  hgvsp: ENSP00000294952.8:p.Arg549Cys
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg549Cys
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

2-48722864-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722864
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722864
    reference: chr 2
allele count: 5
allele frequency: 4.1209244057627e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*339G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1520G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1646G>A
  hgvsp: ENSP00000281394.4:p.Arg549His
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2768G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1646G>A
  hgvsp: ENSP00000294952.8:p.Arg549His
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1470G>A
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg549His
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

2-48722870-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722870
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722870
    reference: chr 2
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1526T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1652T>C
  hgvsp: ENSP00000281394.4:p.Leu551Pro
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1652T>C
  hgvsp: ENSP00000294952.8:p.Leu551Pro
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1476T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2762T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*345T>C
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu551Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

2-48722879-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722879
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722879
    reference: chr 2
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1661C>T
  hgvsp: ENSP00000281394.4:p.Ser554Phe
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1661C>T
  hgvsp: ENSP00000294952.8:p.Ser554Phe
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1485C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2753C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*354C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1535C>T
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser554Phe
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-48722891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722891
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722891
    reference: chr 2
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1673G>A
  hgvsp: ENSP00000281394.4:p.Arg558Gln
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1497G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1547G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*366G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1673G>A
  hgvsp: ENSP00000294952.8:p.Arg558Gln
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2741G>A
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg558Gln
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

2-48722893-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722893
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722893
    reference: chr 2
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2739G>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1675G>C
  hgvsp: ENSP00000294952.8:p.Glu559Gln
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1499G>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*368G>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1675G>C
  hgvsp: ENSP00000281394.4:p.Glu559Gln
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1549G>C
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu559Gln
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

2-48722897-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722897
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722897
    reference: chr 2
allele count: 720
allele frequency: 5.942555298778475e-3
allele num: 121160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1553G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1503G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2735G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*372G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1679G>T
  hgvsp: ENSP00000281394.4:p.Gly560Val
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1679G>T
  hgvsp: ENSP00000294952.8:p.Gly560Val
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 15338
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 29435
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10851
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 3.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 9.75e1
  variant carriers: 711
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly560Val
num of homozygotes: 9
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-48722898-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722898
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722898
    reference: chr 2
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*373C>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2734C>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1680C>A
  hgvsp: ENST00000294952.8:c.1680C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1680C>A
  hgvsp: ENST00000281394.4:c.1680C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1504C>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1554C>A
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly560Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

2-48722898-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722898
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722898
    reference: chr 2
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*373C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1680C>G
  hgvsp: ENST00000281394.4:c.1680C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1554C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2734C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1504C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1680C>G
  hgvsp: ENST00000294952.8:c.1680C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48152
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly560Gly
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

2-48722916-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722916
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722916
    reference: chr 2
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*385+6G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1566+6G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1692+6G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1692+6G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2716G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1516+6G>T
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15040
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1692+6G>T
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

2-48722929-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722929
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722929
    reference: chr 2
allele count: 1
allele frequency: 8.364421098415779e-6
allele num: 119554
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*385+19T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1566+19T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1516+19T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1692+19T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2703T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1692+19T>C
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46458
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-48722932-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722932
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722932
    reference: chr 2
allele count: 1
allele frequency: 8.403785064793184e-6
allele num: 118994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*385+22G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1566+22G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1516+22G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2700G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1692+22G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1692+22G>A
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

2-48722946-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722946
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722946
    reference: chr 2
allele count: 1
allele frequency: 8.746457684637721e-6
allele num: 114332
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1692+36A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1516+36A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1692+36A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2686A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*385+36A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1566+36A>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8977
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

2-48722951-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722951
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722951
    reference: chr 2
allele count: 1
allele frequency: 8.996365468350786e-6
allele num: 111156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*385+41A>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1516+41A>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2681A>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1692+41A>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1566+41A>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1692+41A>T
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

2-48722955-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722955
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722955
    reference: chr 2
allele count: 1
allele frequency: 9.134922809902257e-6
allele num: 109470
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1692+45G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1566+45G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1516+45G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1692+45G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*385+45G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2677G>A
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12979
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

2-48722957-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722957
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722956
    reference: chr 2
allele count: 1
allele frequency: 9.225262458716951e-6
allele num: 108398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1692+50delA
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1516+50delA
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1566+50delA
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1692+50delA
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2672delA
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*385+50delA
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9985
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: TA
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-48722958-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722958
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722958
    reference: chr 2
allele count: 1
allele frequency: 9.279020135473694e-6
allele num: 107770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1516+48A>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1692+48A>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1566+48A>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1692+48A>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2674A>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*385+48A>C
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
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genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28605
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

2-48722961-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722961
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722960
    reference: chr 2
allele count: 1
allele frequency: 9.446438692612885e-6
allele num: 105860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1692+56delC
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1516+56delC
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2666delC
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1566+56delC
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1692+56delC
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*385+56delC
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 86
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genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
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genotype quality: GenotypeQuality
  all individuals: 255
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genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16697
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: TC
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

2-48722962-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722962
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722962
    reference: chr 2
allele count: 1
allele frequency: 9.474900987284683e-6
allele num: 105542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1692+52C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*385+52C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1566+52C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1692+52C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2670C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1516+52C>T
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17016
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-48722964-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722964
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722964
    reference: chr 2
allele count: 15
allele frequency: 1.4308062116067e-4
allele num: 104836
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1692+54C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*385+54C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1516+54C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2668C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1692+54C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1566+54C>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8427
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14452
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-48722967-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722967
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722967
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 103626
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1692+57A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1566+57A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2665A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*385+57A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1516+57A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1692+57A>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7032
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5029
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

2-48722969-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722969
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722969
    reference: chr 2
allele count: 83
allele frequency: 8.0684358899582e-4
allele num: 102870
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1692+59A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1692+59A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1566+59A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1516+59A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*385+59A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2663A>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11516
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 20627
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18728
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4567
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5535
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-48722977-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722977
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722977
    reference: chr 2
allele count: 1
allele frequency: 1.005995734578085e-5
allele num: 99404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1692+67T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*385+67T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1516+67T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2655T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1566+67T>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1692+67T>C
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21961
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7671
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18070
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-48722979-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722979
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722979
    reference: chr 2
allele count: 1
allele frequency: 1.031821371084238e-5
allele num: 96916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1516+69T>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1566+69T>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1692+69T>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2653T>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1692+69T>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*385+69T>A
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8042
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5503
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16871
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

2-48722985-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722985
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722985
    reference: chr 2
allele count: 5
allele frequency: 5.40891389009087e-5
allele num: 92440
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1692+75A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1566+75A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1516+75A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1692+75A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*385+75A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2647A>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11129
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19507
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13855
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8303
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5467
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6542
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3444
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

2-48722986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722986
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722986
    reference: chr 2
allele count: 4
allele frequency: 4.354357623391609e-5
allele num: 91862
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1692+76C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1692+76C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2646C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1566+76C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*385+76C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1516+76C>T
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11184
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19507
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13812
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6484
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 594
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2255
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5419
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
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genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 190
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-48722987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48722987
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48722987
    reference: chr 2
allele count: 2
allele frequency: 2.191348555901302e-5
allele num: 91268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1516+77G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*385+77G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1692+77G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1566+77G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-2645G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1692+77G>A
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11510
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6529
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14177
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-48725584-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725584
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725584
    reference: chr 2
allele count: 1
allele frequency: 8.526166805927391e-6
allele num: 117286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1517-48G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1693-48G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*386-48G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-48G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1567-48G>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1693-48G>T
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7756
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6037
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-48725587-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725587
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725588
    reference: chr 2
allele count: 1
allele frequency: 8.514841368505305e-6
allele num: 117442
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1567-44dupA
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*386-44dupA
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1693-44dupA
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1693-44dupA
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-44dupA
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1517-44dupA
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15494
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7758
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3859
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-48725592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725592
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725592
    reference: chr 2
allele count: 1
allele frequency: 8.521371599972732e-6
allele num: 117352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1517-40G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*386-40G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1693-40G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-40G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1567-40G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1693-40G>A
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11705
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7760
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3887
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3023
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

2-48725594-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725594
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725594
    reference: chr 2
allele count: 4
allele frequency: 3.40506673930809e-5
allele num: 117472
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1517-38A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*386-38A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1693-38A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-38A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1693-38A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1567-38A>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17943
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6219
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7764
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-48725598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725598
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725598
    reference: chr 2
allele count: 2
allele frequency: 1.702069716775599e-5
allele num: 117504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*386-34G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-34G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1567-34G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1693-34G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1517-34G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1693-34G>A
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19150
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7766
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.75e1
  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: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-48725600-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725600
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725600
    reference: chr 2
allele count: 5
allele frequency: 4.252713231041404e-5
allele num: 117572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1567-32C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1517-32C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-32C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1693-32C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*386-32C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1693-32C>T
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12538
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19463
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 18253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-48725603-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725603
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725603
    reference: chr 2
allele count: 1
allele frequency: 8.496609852668785e-6
allele num: 117694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1693-29T>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*386-29T>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-29T>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1567-29T>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1517-29T>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1693-29T>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7777
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

2-48725606-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725606
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725606
    reference: chr 2
allele count: 3
allele frequency: 2.545954478333927e-5
allele num: 117834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-26G>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1567-26G>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*386-26G>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1517-26G>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1693-26G>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1693-26G>C
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13113
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21332
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

2-48725607-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725607
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725607
    reference: chr 2
allele count: 2
allele frequency: 1.695662495336928e-5
allele num: 117948
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1693-25A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*386-25A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-25A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1693-25A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1517-25A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1567-25A>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3041
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-48725610-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725610
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725610
    reference: chr 2
allele count: 58206
allele frequency: 4.889452639360237e-1
allele num: 119044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1567-22C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1693-22C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1517-22C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*386-22C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1693-22C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-22C>T
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 5.25e1
  variant carriers: 1118
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 5.75e1
  variant carriers: 749
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 1.75e1
  variant carriers: 4363
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 199
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 1.25e1
  variant carriers: 1428
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 4.25e1
  variant carriers: 3229
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 446
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 377
genotype depth: GenotypeDepth
  all individuals: 10298
  bin: 3.25e1
  variant carriers: 7429
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 3.75e1
  variant carriers: 5298
genotype depth: GenotypeDepth
  all individuals: 11568
  bin: 2.25e1
  variant carriers: 7262
genotype depth: GenotypeDepth
  all individuals: 12807
  bin: 2.75e1
  variant carriers: 8226
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 286
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.75e1
  variant carriers: 270
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.25e1
  variant carriers: 550
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 4.75e1
  variant carriers: 1800
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 9.75e1
  variant carriers: 948
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 267
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 4.75e1
  variant carriers: 824
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.25e1
  variant carriers: 128
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 9.25e1
  variant carriers: 914
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.25e1
  variant carriers: 238
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 150
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.75e1
  variant carriers: 185
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 7.25e1
  variant carriers: 656
genotype quality: GenotypeQuality
  all individuals: 35617
  bin: 9.75e1
  variant carriers: 33326
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.5e0
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.25e1
  variant carriers: 321
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 5.25e1
  variant carriers: 954
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 8.25e1
  variant carriers: 1113
num of homozygotes: 14502
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-48725613-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725613
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725614
    reference: chr 2
allele count: 1
allele frequency: 8.323761008173934e-6
allele num: 120138
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-18dupA
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1693-18dupA
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1567-18dupA
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1693-18dupA
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1517-18dupA
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*386-18dupA
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12424
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9430
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7855
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19789
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

2-48725613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725613
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725613
    reference: chr 2
allele count: 4
allele frequency: 3.329504403269574e-5
allele num: 120138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600-19C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1693-19C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1567-19C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*386-19C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1517-19C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1693-19C>T
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11020
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9430
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4560
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3446
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

2-48725632-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725632
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725632
    reference: chr 2
allele count: 2
allele frequency: 1.661847309469206e-5
allele num: 120348
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1693G>A
  hgvsp: ENSP00000294952.8:p.Val565Ile
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1517G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1567G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*386G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1600G>A
  hgvsp: ENSP00000415696.2:p.Val534Ile
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1693G>A
  hgvsp: ENSP00000281394.4:p.Val565Ile
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14734
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4532
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val565Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

2-48725637-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725637
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725637
    reference: chr 2
allele count: 1
allele frequency: 8.302062232258493e-6
allele num: 120452
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1605A>G
  hgvsp: ENST00000449090.2:c.1605A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1698A>G
  hgvsp: ENST00000281394.4:c.1698A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1698A>G
  hgvsp: ENST00000294952.8:c.1698A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000403001
  ensembl transcript: ENST00000455978
  gene symbol: PPP1R21
  hgvsc: ENST00000455978.1:c.*391A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1572A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1522A>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln566Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD

2-48725657-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725657
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725657
    reference: chr 2
allele count: 1
allele frequency: 8.277597510098669e-6
allele num: 120808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1718C>G
  hgvsp: ENSP00000281394.4:p.Ser573Cys
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1625C>G
  hgvsp: ENSP00000415696.2:p.Ser542Cys
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1542C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1718C>G
  hgvsp: ENSP00000294952.8:p.Ser573Cys
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1592C>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser573Cys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

2-48725657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725657
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725657
    reference: chr 2
allele count: 1
allele frequency: 8.277597510098669e-6
allele num: 120808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1592C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1625C>T
  hgvsp: ENSP00000415696.2:p.Ser542Phe
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1542C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1718C>T
  hgvsp: ENSP00000294952.8:p.Ser573Phe
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1718C>T
  hgvsp: ENSP00000281394.4:p.Ser573Phe
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9430
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser573Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS

2-48725662-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725662
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725662
    reference: chr 2
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1723C>G
  hgvsp: ENSP00000281394.4:p.Leu575Val
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1597C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1723C>G
  hgvsp: ENSP00000294952.8:p.Leu575Val
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1630C>G
  hgvsp: ENSP00000415696.2:p.Leu544Val
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1547C>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8435
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26721
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu575Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-48725662-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725662
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725662
    reference: chr 2
allele count: 4
allele frequency: 3.30611300294244e-5
allele num: 120988
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1723C>T
  hgvsp: ENST00000294952.8:c.1723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1597C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1547C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1723C>T
  hgvsp: ENST00000281394.4:c.1723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1630C>T
  hgvsp: ENST00000449090.2:c.1630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18869
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu575Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP

2-48725676-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725676
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725676
    reference: chr 2
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1644A>G
  hgvsp: ENST00000449090.2:c.1644A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1611A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1737A>G
  hgvsp: ENST00000294952.8:c.1737A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1737A>G
  hgvsp: ENST00000281394.4:c.1737A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1561A>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9433
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26897
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys579Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-48725679-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725679
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725679
    reference: chr 2
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1740A>G
  hgvsp: ENST00000294952.8:c.1740A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1647A>G
  hgvsp: ENST00000449090.2:c.1647A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1614A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1740A>G
  hgvsp: ENST00000281394.4:c.1740A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1564A>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9435
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu580Glu
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-48725680-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725680
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725680
    reference: chr 2
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1741C>T
  hgvsp: ENSP00000294952.8:p.His581Tyr
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1565C>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1741C>T
  hgvsp: ENSP00000281394.4:p.His581Tyr
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1648C>T
  hgvsp: ENSP00000415696.2:p.His550Tyr
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1615C>T
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
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genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3617
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3290
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genotype quality: GenotypeQuality
  all individuals: 4696
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 90
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genotype quality: GenotypeQuality
  all individuals: 61
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genotype quality: GenotypeQuality
  all individuals: 97
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genotype quality: GenotypeQuality
  all individuals: 1578
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His581Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

2-48725688-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725688
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725688
    reference: chr 2
allele count: 3
allele frequency: 2.473084595980413e-5
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1749G>A
  hgvsp: ENSP00000294952.8:p.Met583Ile
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1656G>A
  hgvsp: ENSP00000415696.2:p.Met552Ile
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1573G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1623G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1749G>A
  hgvsp: ENSP00000281394.4:p.Met583Ile
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
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genotype quality: GenotypeQuality
  all individuals: 26965
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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: 1920
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genotype quality: GenotypeQuality
  all individuals: 111
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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: 67
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met583Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

2-48725694-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725694
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725694
    reference: chr 2
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1755A>G
  hgvsp: ENST00000294952.8:c.1755A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1662A>G
  hgvsp: ENST00000449090.2:c.1662A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1579A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1755A>G
  hgvsp: ENST00000281394.4:c.1755A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1629A>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
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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: 428
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genotype depth: GenotypeDepth
  all individuals: 976
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19513
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
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genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  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
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9439
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu585Glu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-48725700-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725700
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725700
    reference: chr 2
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1761A>G
  hgvsp: ENST00000281394.4:c.1761A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1635A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1668A>G
  hgvsp: ENST00000449090.2:c.1668A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1761A>G
  hgvsp: ENST00000294952.8:c.1761A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1585A>G
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9439
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln587Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS

2-48725724-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725724
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725724
    reference: chr 2
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1609A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1659A>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1785A>G
  hgvsp: ENST00000281394.4:c.1785A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1692A>G
  hgvsp: ENST00000449090.2:c.1692A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1785A>G
  hgvsp: ENST00000294952.8:c.1785A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys595Lys
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

2-48725735-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725735
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725735
    reference: chr 2
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1703G>A
  hgvsp: ENSP00000415696.2:p.Arg568Gln
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1796G>A
  hgvsp: ENSP00000294952.8:p.Arg599Gln
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1620G>A
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1796G>A
  hgvsp: ENSP00000281394.4:p.Arg599Gln
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1670G>A
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9442
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg599Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

2-48725736-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725736
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725736
    reference: chr 2
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1671A>T
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1797A>T
  hgvsp: ENST00000281394.4:c.1797A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1797A>T
  hgvsp: ENST00000294952.8:c.1797A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1704A>T
  hgvsp: ENST00000449090.2:c.1704A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1621A>T
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4701
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9442
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg599Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-48725742-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725742
    reference: chr 2
allele count: 3
allele frequency: 2.471780505891077e-5
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1803A>C
  hgvsp: ENST00000281394.4:c.1803A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1710A>C
  hgvsp: ENST00000449090.2:c.1710A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1627A>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1803A>C
  hgvsp: ENST00000294952.8:c.1803A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1677A>C
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8622
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27246
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala601Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

2-48725743-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725743
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725743
    reference: chr 2
allele count: 3
allele frequency: 2.471780505891077e-5
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1804G>C
  hgvsp: ENSP00000281394.4:p.Asp602His
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1804G>C
  hgvsp: ENSP00000294952.8:p.Asp602His
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1711G>C
  hgvsp: ENSP00000415696.2:p.Asp571His
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1678G>C
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1628G>C
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9441
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Asp602His
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: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

2-48725749-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48725749
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 48725749
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000415696
  ensembl transcript: ENST00000449090
  gene symbol: PPP1R21
  hgvsc: ENST00000449090.2:c.1717C>G
  hgvsp: ENSP00000415696.2:p.Leu573Val
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000294952
  ensembl transcript: ENST00000294952
  gene symbol: PPP1R21
  hgvsc: ENST00000294952.8:c.1810C>G
  hgvsp: ENSP00000294952.8:p.Leu604Val
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000414130
  ensembl transcript: ENST00000416913
  gene symbol: PPP1R21
  hgvsc: ENST00000416913.1:c.*1684C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000406283
  ensembl transcript: ENST00000431614
  gene symbol: PPP1R21
  hgvsc: ENST00000431614.1:c.*1634C>G
  variant of: http://identifiers.org/hgnc/30595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162869
  ensembl protein: ENSP00000281394
  ensembl transcript: ENST00000281394
  gene symbol: PPP1R21
  hgvsc: ENST00000281394.4:c.1810C>G
  hgvsp: ENSP00000281394.4:p.Leu604Val
  variant of: http://identifiers.org/hgnc/30595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9442
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu604Val
num of homozygotes: 0
reference allele: C

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

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

GenotypeQuality
all individuals: 1265
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2694
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.887284951552304e-5
allele num: 10114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.221e0

MQRankSum
type: SiteQuality
SIO_000300: 8.34e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 8.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

DP
type: SiteQuality
SIO_000300: 1.716161e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

VQSLOD
type: SiteQuality
SIO_000300: -1.4e-2

QD
type: SiteQuality
SIO_000300: 1.191e1

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2693
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.861932938856015e-5
allele num: 10140
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.615e-1

QD
type: SiteQuality
SIO_000300: 1.584e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

MQRankSum
type: SiteQuality
SIO_000300: -6.99e-1

DP
type: SiteQuality
SIO_000300: 1.717441e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.316e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 6.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2693
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e0

QD
type: SiteQuality
SIO_000300: 1.454e1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-2

DP
type: SiteQuality
SIO_000300: 1.718546e6

MQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

GenotypeQuality
all individuals: 2693
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47387
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.502611514678514e-5
allele num: 66628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

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: 16400
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.837e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.73e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.66e-1

FS
type: SiteQuality
SIO_000300: 1.289e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

QD
type: SiteQuality
SIO_000300: 1.064e1

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-1

DP
type: SiteQuality
SIO_000300: 1.719111e6

VQSLOD
type: SiteQuality
SIO_000300: 2.41e-1

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

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2784
bin: 9.75e1
variant carriers: 181

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
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variant carriers: 0

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

GenotypeQuality
all individuals: 218
bin: 2.25e1
variant carriers: 0

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: 16414
num of homozygotes: 0

African
type: Population
allele count: 150
allele frequency: 1.469723691945914e-2
allele num: 10206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.401248649297635e-4
allele num: 66632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 15
allele frequency: 1.296456352636128e-3
allele num: 11570
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.299e0

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

FS
type: SiteQuality
SIO_000300: 6.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

DP
type: SiteQuality
SIO_000300: 1.728107e6

QD
type: SiteQuality
SIO_000300: 1.335e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6637
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.719032e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.41e-2

QD
type: SiteQuality
SIO_000300: 8.68e0

VQSLOD
type: SiteQuality
SIO_000300: -2.398e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.67e0

FS
type: SiteQuality
SIO_000300: 6.274e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.46e-1

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2612
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47657
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6638
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.27e-1

QD
type: SiteQuality
SIO_000300: 8.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.387e0

VQSLOD
type: SiteQuality
SIO_000300: -1.069e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.98e-1

DP
type: SiteQuality
SIO_000300: 1.719588e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

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

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 117
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2611
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.978e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e0

QD
type: SiteQuality
SIO_000300: 7.09e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 1.719843e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: -1.363e0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1267
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2611
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 578
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6643
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.917720287881735e-4
allele num: 10282
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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: 16498
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

FS
type: SiteQuality
SIO_000300: 1.312e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

QD
type: SiteQuality
SIO_000300: 1.38e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.584e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 1.720138e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47746
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6634
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 4.498e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

QD
type: SiteQuality
SIO_000300: 1.086e1

DP
type: SiteQuality
SIO_000300: 1.721091e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.103e0

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 233
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variant carriers: 0

GenotypeQuality
all individuals: 6634
bin: 6.75e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.103e0

QD
type: SiteQuality
SIO_000300: 1.086e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

FS
type: SiteQuality
SIO_000300: 4.498e0

DP
type: SiteQuality
SIO_000300: 1.721091e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

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

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

GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6647
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2607
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 47768
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.936483346243222e-4
allele num: 10328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

DP
type: SiteQuality
SIO_000300: 1.721345e6

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

QD
type: SiteQuality
SIO_000300: 1.135e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeQuality
all individuals: 6641
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2607
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47774
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995024129972123e-5
allele num: 66722
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.478e1

MQRankSum
type: SiteQuality
SIO_000300: -4.42e-1

DP
type: SiteQuality
SIO_000300: 1.721297e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.099e0

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e-1

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47868
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1155
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 7.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.723371e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.26e-1

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

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

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

GenotypeQuality
all individuals: 574
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6645
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.719471e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.65e-1

FS
type: SiteQuality
SIO_000300: 3.305e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47888
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
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: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.719693e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.199e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

QD
type: SiteQuality
SIO_000300: 1.126e1

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6646
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47904
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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)
type: Population
allele count: 9
allele frequency: 1.348880429243728e-4
allele num: 66722
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.206e1

VQSLOD
type: SiteQuality
SIO_000300: 5.37e0

DP
type: SiteQuality
SIO_000300: 1.720081e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.28e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
all individuals: 57
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47904
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496268097479092e-5
allele num: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.79e-1

DP
type: SiteQuality
SIO_000300: 1.719566e6

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-3

FS
type: SiteQuality
SIO_000300: 7.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 6648
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 8.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.71906e6

FS
type: SiteQuality
SIO_000300: 3.397e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: 4.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.301e0

QD
type: SiteQuality
SIO_000300: 1.591e1

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

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

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6649
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47881
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

MQ
type: SiteQuality
SIO_000300: 5.933e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.358e0

DP
type: SiteQuality
SIO_000300: 1.718844e6

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 2.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-1

QD
type: SiteQuality
SIO_000300: 1.168e1

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47819
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2537
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 577
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.203e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.274e0

DP
type: SiteQuality
SIO_000300: 1.718082e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 1.144e0

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e-1

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6630
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47794
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.365e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 1.669e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 1.71755e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e0

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1217
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6543
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.060284762193275e-3
allele num: 6602
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.275214467887781e-3
allele num: 8626
num of homozygotes: 1

South Asian
type: Population
allele count: 300
allele frequency: 1.820167455405897e-2
allele num: 16482
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 272
allele frequency: 4.080652904464715e-3
allele num: 66656
num of homozygotes: 1

African
type: Population
allele count: 80
allele frequency: 7.738440704198104e-3
allele num: 10338
num of homozygotes: 0

Latino
type: Population
allele count: 44
allele frequency: 3.810183581572567e-3
allele num: 11548
num of homozygotes: 1

Other
type: Population
allele count: 6
allele frequency: 6.607929515418502e-3
allele num: 908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.745616e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.773e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

FS
type: SiteQuality
SIO_000300: 1.429e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.84e-2

GenotypeQuality
all individuals: 205
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6621
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1235
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48152
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 6.56e0

MQRankSum
type: SiteQuality
SIO_000300: -7.15e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

DP
type: SiteQuality
SIO_000300: 1.710008e6

GenotypeQuality
all individuals: 205
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1235
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6621
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-1

FS
type: SiteQuality
SIO_000300: 6.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.710008e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: -7.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.81e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-1

GenotypeQuality
all individuals: 671
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 520
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.25e1
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: 16396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504890895410083e-5
allele num: 66450
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.051e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.679e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 1.702413e6

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-1

FS
type: SiteQuality
SIO_000300: 9.429999999999999e-1

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6246
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.908838684106223e-5
allele num: 10092
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.68129e6

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 2.133e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

QD
type: SiteQuality
SIO_000300: 1.58e1

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525273786644703e-5
allele num: 65562
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.614e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.119e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

FS
type: SiteQuality
SIO_000300: 1.2046e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.669526e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.658e1

GenotypeQuality
all individuals: 2249
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 401
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7670
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.596678907871627e-5
allele num: 62630
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.554132e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 8.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

MQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.496e0

VQSLOD
type: SiteQuality
SIO_000300: -1.097e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1493
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34400
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4276
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9338
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10544
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.457445434586077e-5
allele num: 15486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60642
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.461498e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.108e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.171e0

VQSLOD
type: SiteQuality
SIO_000300: -6.423e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.819e0

GenotypeQuality
all individuals: 103
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1939
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4013
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2239
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 777
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7750
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

QD
type: SiteQuality
SIO_000300: 1.365e1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e-1

DP
type: SiteQuality
SIO_000300: 1.411535e6

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30093
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.696467953720354e-5
allele num: 58946
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9042
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

DP
type: SiteQuality
SIO_000300: 1.371827e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

MQ
type: SiteQuality
SIO_000300: 6.205e1

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2236
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.707708596605075e-5
allele num: 58558
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15244
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.349e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.947e0

DP
type: SiteQuality
SIO_000300: 1.345759e6

QD
type: SiteQuality
SIO_000300: 3.063e1

GenotypeQuality
all individuals: 1218
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15114
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.741553465691397e-5
allele num: 57420
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.168e1

MQRankSum
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SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 6.153e1

VQSLOD
type: SiteQuality
SIO_000300: 9.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.763e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

DP
type: SiteQuality
SIO_000300: 1.274261e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.626027034190299e-5
allele num: 15092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57218
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9896
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.259415e6

VQSLOD
type: SiteQuality
SIO_000300: -2.419e0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.154e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 650
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 17666
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.801887124599515e-5
allele num: 56806
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7416
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.653359946773121e-4
allele num: 15030
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.227786e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.444e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4283
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variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56020
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14950
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7352
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

QD
type: SiteQuality
SIO_000300: 2.237e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.179017e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.248e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 356
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GenotypeQuality
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variant carriers: 82

GenotypeQuality
all individuals: 2885
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variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.800504141159525e-5
allele num: 55540
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.342822613132805e-4
allele num: 14894
num of homozygotes: 0

African
type: Population
allele count: 74
allele frequency: 8.677298311444653e-3
allele num: 8528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7302
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 5.21702838063439e-4
allele num: 9584
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.228501228501228e-3
allele num: 814
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

FS
type: SiteQuality
SIO_000300: 1.453e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

DP
type: SiteQuality
SIO_000300: 1.149813e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 1.568e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2866
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2210
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GenotypeQuality
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GenotypeQuality
all individuals: 514
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GenotypeQuality
all individuals: 210
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.874835951854213e-5
allele num: 53338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6120
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.182e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.045248e6

VQSLOD
type: SiteQuality
SIO_000300: 2.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6964
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.934161154307377e-5
allele num: 51702
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14422
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

FS
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ClippingRankSum
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DP
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SIO_000300: 1.015316e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.586e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1159
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5970
num of homozygotes: 0

Latino
type: Population
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: 6702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49008
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.572449271220348e-4
allele num: 13996
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.77468e5

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6658
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.21287779237845e-5
allele num: 48704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5936
num of homozygotes: 0

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

FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 184
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GenotypeQuality
all individuals: 1233
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13918
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.592688618096966e-4
allele num: 7714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6630
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.71988e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

FS
type: SiteQuality
SIO_000300: 3.089e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.329e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

GenotypeQuality
all individuals: 130
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1960
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3024
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2766
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13024
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2316
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551445947623185e-5
allele num: 64456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
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: 11394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9582
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

DP
type: SiteQuality
SIO_000300: 1.564522e6

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 9.5e0

GenotypeQuality
all individuals: 2815
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2765
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3002
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3970
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6144
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.291682395872656e-5
allele num: 15894
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 6.98e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.57061e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.679e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

GenotypeQuality
all individuals: 1263
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2789
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3648
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1651
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2921
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64496
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172882946281961e-4
allele num: 8526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.328e0

VQSLOD
type: SiteQuality
SIO_000300: -6.667e-1

QD
type: SiteQuality
SIO_000300: 1.368e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

DP
type: SiteQuality
SIO_000300: 1.587128e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

FS
type: SiteQuality
SIO_000300: 8.493e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

GenotypeQuality
all individuals: 3564
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2880
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16859
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3922
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.684937924572499e-4
allele num: 8538
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15912
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.856e0

FS
type: SiteQuality
SIO_000300: 1.9987e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

QD
type: SiteQuality
SIO_000300: 1.234e1

DP
type: SiteQuality
SIO_000300: 1.59302e6

GenotypeQuality
all individuals: 3986
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2909
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3227
bin: 3.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.084201750729471e-4
allele num: 9596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64578
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.606874e6

MQRankSum
type: SiteQuality
SIO_000300: -3.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.668e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.992e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
all individuals: 1674
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4035
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2114
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7772
bin: 9.75e1
variant carriers: 5

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.188884762965714e-5
allele num: 64632
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.765778401122019e-5
allele num: 11408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15934
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

DP
type: SiteQuality
SIO_000300: 1.61372e6

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

FS
type: SiteQuality
SIO_000300: 2.157e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.087e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.88e-1

GenotypeQuality
all individuals: 1195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2948
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.041016031646887e-4
allele num: 9606
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15972
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.65e0

VQSLOD
type: SiteQuality
SIO_000300: -2.031e0

DP
type: SiteQuality
SIO_000300: 1.625391e6

MQRankSum
type: SiteQuality
SIO_000300: -8.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.414e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 2411
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3010
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7787
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1108
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.632346128902751e-5
allele num: 64762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

DP
type: SiteQuality
SIO_000300: 1.638971e6

QD
type: SiteQuality
SIO_000300: 1.537e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 4.841e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.31e-1

GenotypeQuality
all individuals: 2309
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6749
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7789
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 21481
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.085753078038695e-5
allele num: 64814
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.642438e6

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

MQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

GenotypeQuality
all individuals: 551
bin: 4.25e1
variant carriers: 378

GenotypeQuality
all individuals: 3245
bin: 6.75e1
variant carriers: 1228

GenotypeQuality
all individuals: 7280
bin: 6.25e1
variant carriers: 1126

GenotypeQuality
all individuals: 781
bin: 3.75e1
variant carriers: 510

GenotypeQuality
all individuals: 733
bin: 5.75e1
variant carriers: 568

GenotypeQuality
all individuals: 182
bin: 7.5e0
variant carriers: 125

GenotypeQuality
all individuals: 919
bin: 8.75e1
variant carriers: 509

GenotypeQuality
all individuals: 2325
bin: 7.75e1
variant carriers: 1100

Latino
type: Population
allele count: 4927
allele frequency: 4.332571227576504e-1
allele num: 11372
num of homozygotes: 1049

East Asian
type: Population
allele count: 2171
allele frequency: 2.540964419475655e-1
allele num: 8544
num of homozygotes: 261

European (Finnish)
type: Population
allele count: 2713
allele frequency: 4.133150517976844e-1
allele num: 6564
num of homozygotes: 558

Other
type: Population
allele count: 462
allele frequency: 5.15625e-1
allele num: 896
num of homozygotes: 125

European (Non-Finnish)
type: Population
allele count: 33768
allele frequency: 5.155262434734817e-1
allele num: 65502
num of homozygotes: 8639

South Asian
type: Population
allele count: 9143
allele frequency: 5.590681178916473e-1
allele num: 16354
num of homozygotes: 2608

African
type: Population
allele count: 5022
allele frequency: 5.118222584590297e-1
allele num: 9812
num of homozygotes: 1262

DP
type: SiteQuality
SIO_000300: 2.009258e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.85e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.39e-1

FS
type: SiteQuality
SIO_000300: 5.302e0

QD
type: SiteQuality
SIO_000300: 1.873e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

GenotypeQuality
all individuals: 1892
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4560
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9866
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509297271190534e-5
allele num: 66256
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.383e0

FS
type: SiteQuality
SIO_000300: 6.494e0

QD
type: SiteQuality
SIO_000300: 9.44e0

DP
type: SiteQuality
SIO_000300: 1.891866e6

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1276
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1892
bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19789
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018594542381067e-5
allele num: 66256
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.027163997567403e-4
allele num: 9866
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.383e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

DP
type: SiteQuality
SIO_000300: 1.891866e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

FS
type: SiteQuality
SIO_000300: 6.494e0

QD
type: SiteQuality
SIO_000300: 9.44e0

GenotypeQuality
all individuals: 579
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3186
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variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
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variant carriers: 0

GenotypeQuality
all individuals: 9414
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 351
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1554
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variant carriers: 0

GenotypeQuality
all individuals: 23882
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66338
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.019386106623587e-4
allele num: 9904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.452e0

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.13e-1

DP
type: SiteQuality
SIO_000300: 1.922295e6

QD
type: SiteQuality
SIO_000300: 1.08e1

FS
type: SiteQuality
SIO_000300: 1.2984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.246e-1

GenotypeQuality
all individuals: 3493
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
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variant carriers: 0

GenotypeQuality
all individuals: 8226
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 1896
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variant carriers: 0

GenotypeQuality
all individuals: 574
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variant carriers: 0

GenotypeQuality
all individuals: 9421
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3198
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variant carriers: 0

GenotypeQuality
all individuals: 4566
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66394
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9944
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.929085e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.143e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.46e0

GenotypeQuality
all individuals: 4621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8384
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9430
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 203
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variant carriers: 0

GenotypeQuality
all individuals: 3564
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.877518767285657e-5
allele num: 10124
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
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: 16470
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.538e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.947997e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.15e0

VQSLOD
type: SiteQuality
SIO_000300: -8.022e-1

FS
type: SiteQuality
SIO_000300: 1.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4621
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
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: 16470
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.09e-1

QD
type: SiteQuality
SIO_000300: 1.538e1

MQRankSum
type: SiteQuality
SIO_000300: 2.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: -8.022e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.947997e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

FS
type: SiteQuality
SIO_000300: 1.754e0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1913
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3579
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
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variant carriers: 0

GenotypeQuality
all individuals: 9435
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.773260359655981e-5
allele num: 10232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

DP
type: SiteQuality
SIO_000300: 1.952748e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e0

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
all individuals: 4638
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9435
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 8435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1913
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variant carriers: 0

GenotypeQuality
all individuals: 3579
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.007449237053947e-5
allele num: 66584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

QD
type: SiteQuality
SIO_000300: 1.348e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e0

DP
type: SiteQuality
SIO_000300: 1.952748e6

GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 8521
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.935e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

MQRankSum
type: SiteQuality
SIO_000300: -1.256e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.297e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.431e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

DP
type: SiteQuality
SIO_000300: 1.960642e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3293
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GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.51e-1

QD
type: SiteQuality
SIO_000300: 1.086e1

FS
type: SiteQuality
SIO_000300: 4.541e0

DP
type: SiteQuality
SIO_000300: 1.961477e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.201e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 1917
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GenotypeQuality
all individuals: 81
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GenotypeQuality
all individuals: 26952
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GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 9436
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.84e0

MQRankSum
type: SiteQuality
SIO_000300: -1.138e0

FS
type: SiteQuality
SIO_000300: 1.143e0

VQSLOD
type: SiteQuality
SIO_000300: -6.817e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.181e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.961935e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.614e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49829064955317e-5
allele num: 66692
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
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: 11548
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

FS
type: SiteQuality
SIO_000300: 2.17e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.85e-1

QD
type: SiteQuality
SIO_000300: 1.119e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 1.963554e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.779e0

GenotypeQuality
all individuals: 8580
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4710
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
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: 906
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.964761e6

VQSLOD
type: SiteQuality
SIO_000300: -2.054e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 1.5832e1

QD
type: SiteQuality
SIO_000300: 1.454e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.46e-1

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1922
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variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3638
bin: 7.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.965799e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.08e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 1.07e1

FS
type: SiteQuality
SIO_000300: 1.542e0

GenotypeQuality
all individuals: 3640
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 9439
bin: 9.75e1
variant carriers: 1

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

QD
type: SiteQuality
SIO_000300: 1.636e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

DP
type: SiteQuality
SIO_000300: 1.968509e6

FS
type: SiteQuality
SIO_000300: 1.791e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.26e-1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4700
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.271e1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.062e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.970143e6

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3648
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.859e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.901e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.217e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.970016e6

VQSLOD
type: SiteQuality
SIO_000300: -1.233e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.281e1

FS
type: SiteQuality
SIO_000300: 4.959e0

MQRankSum
type: SiteQuality
SIO_000300: -6.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.058e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.970716e6

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.970851e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0